Name: rs8034191
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs8034191

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:78513681 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.327914 (114909/350424, ALFA)
C=0.259538 (68697/264690, TOPMED)
C=0.274726 (38488/140096, GnomAD) (+ 22 more)
C=0.02113 (597/28258, 14KJPN)
C=0.02226 (373/16760, 8.3KJPN)
C=0.1902 (1218/6404, 1000G_30x)
C=0.1889 (946/5008, 1000G)
C=0.3272 (1466/4480, Estonian)
C=0.3272 (1261/3854, ALSPAC)
C=0.3317 (1230/3708, TWINSUK)
C=0.0264 (77/2922, KOREAN)
C=0.2318 (483/2084, HGDP_Stanford)
C=0.1964 (368/1874, HapMap)
C=0.0235 (43/1832, Korea1K)
C=0.3739 (418/1118, Daghestan)
C=0.341 (340/998, GoNL)
C=0.033 (26/792, PRJEB37584)
C=0.224 (140/626, Chileans)
C=0.297 (178/600, NorthernSweden)
C=0.394 (85/216, Qatari)
C=0.014 (3/212, Vietnamese)
T=0.411 (78/190, SGDP_PRJ)
T=0.46 (22/48, Ancient Sardinia)
C=0.47 (19/40, GENOME_DK)
T=0.43 (12/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HYKK : Intron Variant
Publications: 124 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	350640	T=0.672074	C=0.327926	0.457147	0.112999	0.429854	32
European	Sub	301574	T=0.651346	C=0.348654	0.425561	0.122869	0.451571	3
African	Sub	11748	T=0.82882	C=0.17118	0.685564	0.02792	0.286517	0
African Others	Sub	412	T=0.874	C=0.126	0.762136	0.014563	0.223301	0
African American	Sub	11336	T=0.82719	C=0.17281	0.682781	0.028405	0.288814	0
Asian	Sub	6936	T=0.9704	C=0.0296	0.942042	0.001153	0.056805	0
East Asian	Sub	4966	T=0.9750	C=0.0250	0.951269	0.001208	0.047523	1
Other Asian	Sub	1970	T=0.9589	C=0.0411	0.918782	0.001015	0.080203	0
Latin American 1	Sub	1196	T=0.7333	C=0.2667	0.558528	0.091973	0.349498	4
Latin American 2	Sub	7362	T=0.8164	C=0.1836	0.672643	0.039935	0.287422	4
South Asian	Sub	5232	T=0.7468	C=0.2532	0.561162	0.067661	0.371177	1
Other	Sub	16592	T=0.72113	C=0.27887	0.531099	0.088838	0.380063	14

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	350424	T=0.672086	C=0.327914
Allele Frequency Aggregator	European	Sub	301394	T=0.651350	C=0.348650
Allele Frequency Aggregator	Other	Sub	16570	T=0.72142	C=0.27858
Allele Frequency Aggregator	African	Sub	11734	T=0.82862	C=0.17138
Allele Frequency Aggregator	Latin American 2	Sub	7362	T=0.8164	C=0.1836
Allele Frequency Aggregator	Asian	Sub	6936	T=0.9704	C=0.0296
Allele Frequency Aggregator	South Asian	Sub	5232	T=0.7468	C=0.2532
Allele Frequency Aggregator	Latin American 1	Sub	1196	T=0.7333	C=0.2667
TopMed	Global	Study-wide	264690	T=0.740462	C=0.259538
gnomAD - Genomes	Global	Study-wide	140096	T=0.725274	C=0.274726
gnomAD - Genomes	European	Sub	75850	T=0.65139	C=0.34861
gnomAD - Genomes	African	Sub	42002	T=0.83289	C=0.16711
gnomAD - Genomes	American	Sub	13642	T=0.76448	C=0.23552
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.6531	C=0.3469
gnomAD - Genomes	East Asian	Sub	3130	T=0.9748	C=0.0252
gnomAD - Genomes	Other	Sub	2148	T=0.7291	C=0.2709
14KJPN	JAPANESE	Study-wide	28258	T=0.97887	C=0.02113
8.3KJPN	JAPANESE	Study-wide	16760	T=0.97774	C=0.02226
1000Genomes_30x	Global	Study-wide	6404	T=0.8098	C=0.1902
1000Genomes_30x	African	Sub	1786	T=0.8544	C=0.1456
1000Genomes_30x	Europe	Sub	1266	T=0.6137	C=0.3863
1000Genomes_30x	South Asian	Sub	1202	T=0.8103	C=0.1897
1000Genomes_30x	East Asian	Sub	1170	T=0.9692	C=0.0308
1000Genomes_30x	American	Sub	980	T=0.791	C=0.209
1000Genomes	Global	Study-wide	5008	T=0.8111	C=0.1889
1000Genomes	African	Sub	1322	T=0.8472	C=0.1528
1000Genomes	East Asian	Sub	1008	T=0.9712	C=0.0288
1000Genomes	Europe	Sub	1006	T=0.6252	C=0.3748
1000Genomes	South Asian	Sub	978	T=0.807	C=0.193
1000Genomes	American	Sub	694	T=0.785	C=0.215
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6728	C=0.3272
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6728	C=0.3272
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6683	C=0.3317
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9736	C=0.0264
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.7682	C=0.2318
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.947	C=0.053
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.669	C=0.331
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.606	C=0.394
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.613	C=0.388
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.822	C=0.178
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.940	C=0.060
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.96	C=0.04
HapMap	Global	Study-wide	1874	T=0.8036	C=0.1964
HapMap	American	Sub	756	T=0.766	C=0.234
HapMap	African	Sub	688	T=0.840	C=0.160
HapMap	Asian	Sub	254	T=0.988	C=0.012
HapMap	Europe	Sub	176	T=0.557	C=0.443
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9765	C=0.0235
Genome-wide autozygosity in Daghestan	Global	Study-wide	1118	T=0.6261	C=0.3739
Genome-wide autozygosity in Daghestan	Daghestan	Sub	620	T=0.598	C=0.402
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.562	C=0.438
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.762	C=0.238
Genome-wide autozygosity in Daghestan	Europe	Sub	106	T=0.623	C=0.377
Genome-wide autozygosity in Daghestan	South Asian	Sub	90	T=0.82	C=0.18
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.42	C=0.58
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.659	C=0.341
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.967	C=0.033
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.967	C=0.033
Chileans	Chilean	Study-wide	626	T=0.776	C=0.224
Northern Sweden	ACPOP	Study-wide	600	T=0.703	C=0.297
Qatari	Global	Study-wide	216	T=0.606	C=0.394
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.986	C=0.014
SGDP_PRJ	Global	Study-wide	190	T=0.411	C=0.589
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	48	T=0.46	C=0.54
The Danish reference pan genome	Danish	Study-wide	40	T=0.53	C=0.47
Siberian	Global	Study-wide	28	T=0.43	C=0.57

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 15	NC_000015.10:g.78513681T>C
GRCh37.p13 chr 15	NC_000015.9:g.78806023T>C

Gene: HYKK, hydroxylysine kinase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HYKK transcript variant 1	NM_001013619.4:c.337+256T… NM_001013619.4:c.337+256T>C	N/A	Intron Variant
HYKK transcript variant 2	NM_001083612.2:c.337+256T… NM_001083612.2:c.337+256T>C	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	C
GRCh38.p14 chr 15	NC_000015.10:g.78513681=	NC_000015.10:g.78513681T>C
GRCh37.p13 chr 15	NC_000015.9:g.78806023=	NC_000015.9:g.78806023T>C
HYKK transcript variant 1	NM_001013619.2:c.337+256=	NM_001013619.2:c.337+256T>C
HYKK transcript variant 1	NM_001013619.4:c.337+256=	NM_001013619.4:c.337+256T>C
HYKK transcript variant 2	NM_001083612.1:c.337+256=	NM_001083612.1:c.337+256T>C
HYKK transcript variant 2	NM_001083612.2:c.337+256=	NM_001083612.2:c.337+256T>C

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

147 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12328368	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss16670626	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss17535942	Feb 27, 2004 (120)
4	PERLEGEN	ss24449843	Sep 20, 2004 (123)
5	ABI	ss43717139	Mar 15, 2006 (126)
6	ILLUMINA	ss66693337	Dec 01, 2006 (127)
7	ILLUMINA	ss67863014	Dec 01, 2006 (127)
8	ILLUMINA	ss68011210	Dec 01, 2006 (127)
9	ILLUMINA	ss70966095	May 26, 2008 (130)
10	ILLUMINA	ss71575806	May 18, 2007 (127)
11	ILLUMINA	ss75582188	Dec 07, 2007 (129)
12	AFFY	ss76794887	Dec 07, 2007 (129)
13	ILLUMINA	ss79278928	Dec 16, 2007 (130)
14	KRIBB_YJKIM	ss84773536	Dec 16, 2007 (130)
15	1000GENOMES	ss108966187	Jan 23, 2009 (130)
16	ILLUMINA	ss122887589	Dec 01, 2009 (131)
17	ILLUMINA	ss154464474	Dec 01, 2009 (131)
18	ILLUMINA	ss159639036	Dec 01, 2009 (131)
19	ILLUMINA	ss160942174	Dec 01, 2009 (131)
20	ENSEMBL	ss161735603	Dec 01, 2009 (131)
21	ILLUMINA	ss172387242	Jul 04, 2010 (132)
22	ILLUMINA	ss174682043	Jul 04, 2010 (132)
23	1000GENOMES	ss226987670	Jul 14, 2010 (132)
24	1000GENOMES	ss236845541	Jul 15, 2010 (132)
25	1000GENOMES	ss243220400	Jul 15, 2010 (132)
26	BL	ss255132116	May 09, 2011 (134)
27	GMI	ss286987001	Apr 25, 2013 (138)
28	PJP	ss291757216	May 09, 2011 (134)
29	PAGE_STUDY	ss469414515	May 04, 2012 (137)
30	PAGE_STUDY	ss469415183	May 04, 2012 (137)
31	PAGE_STUDY	ss469996369	May 04, 2012 (137)
32	ILLUMINA	ss481759637	May 04, 2012 (137)
33	ILLUMINA	ss481791733	May 04, 2012 (137)
34	ILLUMINA	ss482755095	Sep 08, 2015 (146)
35	ILLUMINA	ss485674591	May 04, 2012 (137)
36	EXOME_CHIP	ss491497904	May 04, 2012 (137)
37	ILLUMINA	ss537546739	Sep 08, 2015 (146)
38	TISHKOFF	ss564593091	Apr 25, 2013 (138)
39	SSMP	ss660330550	Apr 25, 2013 (138)
40	ILLUMINA	ss778624131	Aug 21, 2014 (142)
41	ILLUMINA	ss780686978	Aug 21, 2014 (142)
42	ILLUMINA	ss783282863	Aug 21, 2014 (142)
43	ILLUMINA	ss783360519	Aug 21, 2014 (142)
44	ILLUMINA	ss784235798	Aug 21, 2014 (142)
45	ILLUMINA	ss825609446	Jul 19, 2016 (147)
46	ILLUMINA	ss832544024	Apr 01, 2015 (144)
47	ILLUMINA	ss833149896	Aug 21, 2014 (142)
48	ILLUMINA	ss833740724	Aug 21, 2014 (142)
49	ILLUMINA	ss834081658	Aug 21, 2014 (142)
50	EVA-GONL	ss991981297	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1080266539	Aug 21, 2014 (142)
52	1000GENOMES	ss1354228962	Aug 21, 2014 (142)
53	HAMMER_LAB	ss1397701857	Sep 08, 2015 (146)
54	DDI	ss1427685545	Apr 01, 2015 (144)
55	EVA_GENOME_DK	ss1577712955	Apr 01, 2015 (144)
56	EVA_UK10K_ALSPAC	ss1633408360	Apr 01, 2015 (144)
57	EVA_UK10K_TWINSUK	ss1676402393	Apr 01, 2015 (144)
58	EVA_DECODE	ss1696007533	Apr 01, 2015 (144)
59	EVA_SVP	ss1713504214	Apr 01, 2015 (144)
60	ILLUMINA	ss1752172431	Sep 08, 2015 (146)
61	ILLUMINA	ss1752172432	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1808287896	Sep 08, 2015 (146)
63	ILLUMINA	ss1917899368	Feb 12, 2016 (147)
64	WEILL_CORNELL_DGM	ss1935384548	Feb 12, 2016 (147)
65	ILLUMINA	ss1946399390	Feb 12, 2016 (147)
66	AMU	ss1966652406	Feb 12, 2016 (147)
67	GENOMED	ss1968152521	Jul 19, 2016 (147)
68	JJLAB	ss2028473828	Sep 14, 2016 (149)
69	ILLUMINA	ss2094798440	Dec 20, 2016 (150)
70	ILLUMINA	ss2095060244	Dec 20, 2016 (150)
71	USC_VALOUEV	ss2156882324	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2208357320	Dec 20, 2016 (150)
73	ILLUMINA	ss2633253889	Nov 08, 2017 (151)
74	ILLUMINA	ss2633253890	Nov 08, 2017 (151)
75	ILLUMINA	ss2635059725	Nov 08, 2017 (151)
76	GRF	ss2701362792	Nov 08, 2017 (151)
77	ILLUMINA	ss2710820972	Nov 08, 2017 (151)
78	GNOMAD	ss2937103641	Nov 08, 2017 (151)
79	AFFY	ss2985047703	Nov 08, 2017 (151)
80	AFFY	ss2985682598	Nov 08, 2017 (151)
81	SWEGEN	ss3013593066	Nov 08, 2017 (151)
82	ILLUMINA	ss3021651761	Nov 08, 2017 (151)
83	ILLUMINA	ss3021651762	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3028061163	Nov 08, 2017 (151)
85	CSHL	ss3351199378	Nov 08, 2017 (151)
86	ILLUMINA	ss3627406591	Oct 12, 2018 (152)
87	ILLUMINA	ss3627406592	Oct 12, 2018 (152)
88	ILLUMINA	ss3631245006	Oct 12, 2018 (152)
89	ILLUMINA	ss3633103659	Oct 12, 2018 (152)
90	ILLUMINA	ss3633808586	Oct 12, 2018 (152)
91	ILLUMINA	ss3634616071	Oct 12, 2018 (152)
92	ILLUMINA	ss3634616072	Oct 12, 2018 (152)
93	ILLUMINA	ss3635497357	Oct 12, 2018 (152)
94	ILLUMINA	ss3636306356	Oct 12, 2018 (152)
95	ILLUMINA	ss3637248669	Oct 12, 2018 (152)
96	ILLUMINA	ss3638097002	Oct 12, 2018 (152)
97	ILLUMINA	ss3639061021	Oct 12, 2018 (152)
98	ILLUMINA	ss3639536008	Oct 12, 2018 (152)
99	ILLUMINA	ss3640323392	Oct 12, 2018 (152)
100	ILLUMINA	ss3640323393	Oct 12, 2018 (152)
101	ILLUMINA	ss3641063238	Oct 12, 2018 (152)
102	ILLUMINA	ss3641358646	Oct 12, 2018 (152)
103	ILLUMINA	ss3643080446	Oct 12, 2018 (152)
104	ILLUMINA	ss3644652504	Oct 12, 2018 (152)
105	ILLUMINA	ss3652053521	Oct 12, 2018 (152)
106	ILLUMINA	ss3652053522	Oct 12, 2018 (152)
107	ILLUMINA	ss3653819986	Oct 12, 2018 (152)
108	EGCUT_WGS	ss3680734401	Jul 13, 2019 (153)
109	EVA_DECODE	ss3698268610	Jul 13, 2019 (153)
110	ILLUMINA	ss3725516414	Jul 13, 2019 (153)
111	ACPOP	ss3741087076	Jul 13, 2019 (153)
112	ILLUMINA	ss3744423374	Jul 13, 2019 (153)
113	ILLUMINA	ss3744916593	Jul 13, 2019 (153)
114	ILLUMINA	ss3744916594	Jul 13, 2019 (153)
115	EVA	ss3753325223	Jul 13, 2019 (153)
116	ILLUMINA	ss3772415140	Jul 13, 2019 (153)
117	ILLUMINA	ss3772415141	Jul 13, 2019 (153)
118	KHV_HUMAN_GENOMES	ss3818629189	Jul 13, 2019 (153)
119	EVA	ss3834329012	Apr 27, 2020 (154)
120	EVA	ss3840764075	Apr 27, 2020 (154)
121	EVA	ss3846254058	Apr 27, 2020 (154)
122	HGDP	ss3847529752	Apr 27, 2020 (154)
123	SGDP_PRJ	ss3883313085	Apr 27, 2020 (154)
124	KRGDB	ss3932542020	Apr 27, 2020 (154)
125	KOGIC	ss3976540095	Apr 27, 2020 (154)
126	EVA	ss3984704366	Apr 26, 2021 (155)
127	EVA	ss3985728170	Apr 26, 2021 (155)
128	EVA	ss4017711853	Apr 26, 2021 (155)
129	TOPMED	ss4998134976	Apr 26, 2021 (155)
130	TOMMO_GENOMICS	ss5217091869	Apr 26, 2021 (155)
131	EVA	ss5237554245	Apr 26, 2021 (155)
132	1000G_HIGH_COVERAGE	ss5299111649	Oct 16, 2022 (156)
133	EVA	ss5315798713	Oct 16, 2022 (156)
134	HUGCELL_USP	ss5492769591	Oct 16, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5600850142	Oct 16, 2022 (156)
136	SANFORD_IMAGENETICS	ss5624365824	Oct 16, 2022 (156)
137	SANFORD_IMAGENETICS	ss5657886281	Oct 16, 2022 (156)
138	TOMMO_GENOMICS	ss5771167256	Oct 16, 2022 (156)
139	EVA	ss5799943142	Oct 16, 2022 (156)
140	YY_MCH	ss5815501618	Oct 16, 2022 (156)
141	EVA	ss5828460794	Oct 16, 2022 (156)
142	EVA	ss5847452316	Oct 16, 2022 (156)
143	EVA	ss5847750759	Oct 16, 2022 (156)
144	EVA	ss5876649548	Oct 16, 2022 (156)
145	EVA	ss5949304375	Oct 16, 2022 (156)
146	EVA	ss5979467668	Oct 16, 2022 (156)
147	EVA	ss5980883315	Oct 16, 2022 (156)
148	1000Genomes	NC_000015.9 - 78806023	Oct 12, 2018 (152)
149	1000Genomes_30x	NC_000015.10 - 78513681	Oct 16, 2022 (156)
150	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 78806023	Oct 12, 2018 (152)
151	Chileans	NC_000015.9 - 78806023	Apr 27, 2020 (154)
152	Genome-wide autozygosity in Daghestan	NC_000015.8 - 76593078	Apr 27, 2020 (154)
153	Genetic variation in the Estonian population	NC_000015.9 - 78806023	Oct 12, 2018 (152)
154	The Danish reference pan genome	NC_000015.9 - 78806023	Apr 27, 2020 (154)
155	gnomAD - Genomes	NC_000015.10 - 78513681	Apr 26, 2021 (155)
156	Genome of the Netherlands Release 5	NC_000015.9 - 78806023	Apr 27, 2020 (154)
157	HGDP-CEPH-db Supplement 1	NC_000015.8 - 76593078	Apr 27, 2020 (154)
158	HapMap	NC_000015.10 - 78513681	Apr 27, 2020 (154)
159	KOREAN population from KRGDB	NC_000015.9 - 78806023	Apr 27, 2020 (154)
160	Korean Genome Project	NC_000015.10 - 78513681	Apr 27, 2020 (154)
161	Northern Sweden	NC_000015.9 - 78806023	Jul 13, 2019 (153)
162	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 78806023	Apr 26, 2021 (155)
163	CNV burdens in cranial meningiomas	NC_000015.9 - 78806023	Apr 26, 2021 (155)
164	Qatari	NC_000015.9 - 78806023	Apr 27, 2020 (154)
165	SGDP_PRJ	NC_000015.9 - 78806023	Apr 27, 2020 (154)
166	Siberian	NC_000015.9 - 78806023	Apr 27, 2020 (154)
167	8.3KJPN	NC_000015.9 - 78806023	Apr 26, 2021 (155)
168	14KJPN	NC_000015.10 - 78513681	Oct 16, 2022 (156)
169	TopMed	NC_000015.10 - 78513681	Apr 26, 2021 (155)
170	UK 10K study - Twins	NC_000015.9 - 78806023	Oct 12, 2018 (152)
171	A Vietnamese Genetic Variation Database	NC_000015.9 - 78806023	Jul 13, 2019 (153)
172	ALFA	NC_000015.10 - 78513681	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17485211	Oct 08, 2004 (123)
rs61065212	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
171981, 207644, ss108966187, ss160942174, ss255132116, ss286987001, ss291757216, ss481759637, ss825609446, ss1397701857, ss1696007533, ss1713504214, ss2635059725, ss3639061021, ss3639536008, ss3643080446, ss3847529752	NC_000015.8:76593077:T:C	NC_000015.10:78513680:T:C	(self)
67328171, 37388436, 156906, 26472649, 3933546, 16683750, 39719414, 14371941, 954097, 253891, 17426478, 35330065, 9398678, 75061176, 37388436, 8311811, ss226987670, ss236845541, ss243220400, ss481791733, ss482755095, ss485674591, ss491497904, ss537546739, ss564593091, ss660330550, ss778624131, ss780686978, ss783282863, ss783360519, ss784235798, ss832544024, ss833149896, ss833740724, ss834081658, ss991981297, ss1080266539, ss1354228962, ss1427685545, ss1577712955, ss1633408360, ss1676402393, ss1752172431, ss1752172432, ss1808287896, ss1917899368, ss1935384548, ss1946399390, ss1966652406, ss1968152521, ss2028473828, ss2094798440, ss2095060244, ss2156882324, ss2633253889, ss2633253890, ss2701362792, ss2710820972, ss2937103641, ss2985047703, ss2985682598, ss3013593066, ss3021651761, ss3021651762, ss3351199378, ss3627406591, ss3627406592, ss3631245006, ss3633103659, ss3633808586, ss3634616071, ss3634616072, ss3635497357, ss3636306356, ss3637248669, ss3638097002, ss3640323392, ss3640323393, ss3641063238, ss3641358646, ss3644652504, ss3652053521, ss3652053522, ss3653819986, ss3680734401, ss3741087076, ss3744423374, ss3744916593, ss3744916594, ss3753325223, ss3772415140, ss3772415141, ss3834329012, ss3840764075, ss3883313085, ss3932542020, ss3984704366, ss3985728170, ss4017711853, ss5217091869, ss5237554245, ss5315798713, ss5624365824, ss5657886281, ss5799943142, ss5828460794, ss5847452316, ss5847750759, ss5949304375, ss5979467668, ss5980883315	NC_000015.9:78806022:T:C	NC_000015.10:78513680:T:C	(self)
88376077, 474693665, 1299108, 32918096, 105004360, 213680636, 7797750026, ss2208357320, ss3028061163, ss3698268610, ss3725516414, ss3818629189, ss3846254058, ss3976540095, ss4998134976, ss5299111649, ss5492769591, ss5600850142, ss5771167256, ss5815501618, ss5876649548	NC_000015.10:78513680:T:C	NC_000015.10:78513680:T:C	(self)
ss12328368	NT_010194.15:49592422:T:C	NC_000015.10:78513680:T:C	(self)
ss16670626, ss17535942	NT_010194.16:49596342:T:C	NC_000015.10:78513680:T:C	(self)
ss24449843, ss43717139, ss66693337, ss67863014, ss68011210, ss70966095, ss71575806, ss75582188, ss76794887, ss79278928, ss84773536, ss122887589, ss154464474, ss159639036, ss161735603, ss172387242, ss174682043, ss469414515, ss469415183, ss469996369	NT_010194.17:49596579:T:C	NC_000015.10:78513680:T:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

124 citations for rs8034191

PMID	Title	Author	Year	Journal
18385676	Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.	Amos CI et al.	2008	Nature genetics
18759969	In search of causal variants: refining disease association signals using cross-population contrasts.	Saccone NL et al.	2008	BMC genetics
18780872	Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.	Liu P et al.	2008	Journal of the National Cancer Institute
18957677	The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.	Spitz MR et al.	2008	Journal of the National Cancer Institute
19029397	Nicotinic receptor gene variants influence susceptibility to heavy smoking.	Stevens VL et al.	2008	Cancer epidemiology, biomarkers & prevention
19064933	Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.	Joslyn G et al.	2008	Proceedings of the National Academy of Sciences of the United States of America
19247474	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Caporaso N et al.	2009	PloS one
19259974	Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.	Saccone NL et al.	2009	American journal of medical genetics. Part B, Neuropsychiatric genetics
19300482	A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.	Pillai SG et al.	2009	PLoS genetics
19300500	A genome-wide association study of pulmonary function measures in the Framingham Heart Study.	Wilk JB et al.	2009	PLoS genetics
19465454	The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung.	Zienolddiny S et al.	2009	Carcinogenesis
19474294	Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.	Hindorff LA et al.	2009	Proceedings of the National Academy of Sciences of the United States of America
19639606	Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.	Zhong H et al.	2010	Genetic epidemiology
19641473	Racial differences in the association between SNPs on 15q25.1, smoking behavior, and risk of non-small cell lung cancer.	Schwartz AG et al.	2009	Journal of thoracic oncology
19654303	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Broderick P et al.	2009	Cancer research
19706762	The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.	Saccone NL et al.	2009	Cancer research
19733931	Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients.	Carcereny E et al.	2010	Lung cancer (Amsterdam, Netherlands)
19741265	Genetics and genomics of chronic obstructive pulmonary disease.	Silverman EK et al.	2009	Proceedings of the American Thoracic Society
19776245	Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals.	Lips EH et al.	2010	International journal of epidemiology
19789337	Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25.1.	Liu Y et al.	2009	Cancer research
19800047	Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.	DeMeo DL et al.	2009	American journal of human genetics
19836008	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Landi MT et al.	2009	American journal of human genetics
19859904	Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans.	Li MD et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
19903803	Re: Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.	Spitz MR et al.	2009	Journal of the National Cancer Institute
19951401	Chronic obstructive pulmonary disease: towards pharmacogenetics.	Wood AM et al.	2009	Genome medicine
20010835	Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.	Hancock DB et al.	2010	Nature genetics
20056643	A rigorous and comprehensive validation: common genetic variations and lung cancer.	Yang P et al.	2010	Cancer epidemiology, biomarkers & prevention
20068085	Analysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol: a preliminary report.	Girard N et al.	2010	Clinical cancer research
20142248	Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer.	Liu P et al.	2010	Cancer epidemiology, biomarkers & prevention
20348396	A general framework for studying genetic effects and gene-environment interactions with missing data.	Hu YJ et al.	2010	Biostatistics (Oxford, England)
20395203	A second genetic variant on chromosome 15q24-25.1 associates with lung cancer.	Liu P et al.	2010	Cancer research
20505153	A compendium of genome-wide associations for cancer: critical synopsis and reappraisal.	Ioannidis JP et al.	2010	Journal of the National Cancer Institute
20548021	Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.	Truong T et al.	2010	Journal of the National Cancer Institute
20554942	Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.	Amos CI et al.	2010	Journal of the National Cancer Institute
20585100	Genome-wide association studies of cancer.	Stadler ZK et al.	2010	Journal of clinical oncology
20656943	Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.	Pillai SG et al.	2010	American journal of respiratory and critical care medicine
20833654	Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.	Murphy A et al.	2010	Human molecular genetics
21081471	Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.	Gago-Dominguez M et al.	2011	Carcinogenesis
21168125	TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.	Ducci F et al.	2011	Biological psychiatry
21219822	[Recent progress in genetic variants associated with cancer and their implications in diagnostics development].	Cho WC et al.	2011	Zhongguo fei ai za zhi = Chinese journal of lung cancer
21228559	An exploratory study on the CHRNA3-CHRNA5-CHRNB4 cluster, smoking, and Parkinson's disease.	Gao J et al.	2011	Neuro-degenerative diseases
21229299	Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers.	Sakoda LC et al.	2011	Cancer causes & control
21232152	Epidemiology, radiology, and genetics of nicotine dependence in COPD.	Kim DK et al.	2011	Respiratory research
21320324	The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.	Chappell SL et al.	2011	BMC medical genetics
21500120	Lung cancer in never smokers.	Yang P et al.	2011	Seminars in respiratory and critical care medicine
21533024	Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.	Paré G et al.	2011	PLoS genetics
21559498	Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk.	Wang Y et al.	2011	PloS one
21685187	Genome-wide association study of smoking behaviours in patients with COPD.	Siedlinski M et al.	2011	Thorax
21697764	Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer.	Chen J et al.	2011	Pancreas
21750227	Single-nucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC).	Xun WW et al.	2011	Mutagenesis
21810735	Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.	Conlon MS et al.	2011	Nicotine & tobacco research
21921092	Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.	Brehm JM et al.	2011	Thorax
21929786	Significance testing in ridge regression for genetic data.	Cule E et al.	2011	BMC bioinformatics
21949713	Genetics of sputum gene expression in chronic obstructive pulmonary disease.	Qiu W et al.	2011	PloS one
21966413	Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population.	Jaworowska E et al.	2011	PloS one
22017462	Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children.	Torjussen TM et al.	2012	Pediatric allergy and immunology
22028403	A case-control study of a sex-specific association between a 15q25 variant and lung cancer risk.	Wei C et al.	2011	Cancer epidemiology, biomarkers & prevention
22074863	N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium.	Cox DG et al.	2011	American journal of epidemiology
22080838	A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.	Cho MH et al.	2012	Human molecular genetics
22176972	Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysis.	Zhang J et al.	2011	Respiratory research
22276117	The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis.	Zhao L et al.	2012	PloS one
22356581	Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.	Kim WJ et al.	2012	Respiratory research
22438921	Nicotinic acetylcholine receptor variants are related to smoking habits, but not directly to COPD.	Budulac SE et al.	2012	PloS one
22461431	CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland.	Hardin M et al.	2012	American journal of respiratory cell and molecular biology
22701590	Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis.	Gu M et al.	2012	PloS one
22793939	Genes and chronic obstructive pulmonary disease.	Foreman MG et al.	2012	The Medical clinics of North America
22854838	The influence of race and ethnicity on the biology of cancer.	Henderson BE et al.	2012	Nature reviews. Cancer
22889990	Natural and orthogonal interaction framework for modeling gene-environment interactions with application to lung cancer.	Ma J et al.	2012	Human heredity
22899653	Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.	Timofeeva MN et al.	2012	Human molecular genetics
22914670	Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.	Zhou H et al.	2012	Journal of human genetics
22945651	Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.	Scherf DB et al.	2013	Oncogene
23029550	Associations between variation in CHRNA5-CHRNA3-CHRNB4, body mass index and blood pressure in the Northern Finland Birth Cohort 1966.	Kaakinen M et al.	2012	PloS one
23055711	Updates on the COPD gene list.	Bossé Y et al.	2012	International journal of chronic obstructive pulmonary disease
23056235	Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.	Yang L et al.	2012	PloS one
23090857	Emerging genetics of COPD.	Berndt A et al.	2012	EMBO molecular medicine
23221128	Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.	Walsh KM et al.	2013	Cancer epidemiology, biomarkers & prevention
23255854	A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean population.	Lee JY et al.	2012	Journal of Korean medical science
23299987	Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.	Siedlinski M et al.	2013	Human genetics
23349013	Genetic susceptibility to lung cancer--light at the end of the tunnel?	Marshall AL et al.	2013	Carcinogenesis
23349703	Variants in the 15q24/25 locus associate with lung function decline in active smokers.	Mohamed Hoesein FA et al.	2013	PloS one
23408875	Getting more out of biomedical documents with GATE's full lifecycle open source text analytics.	Cunningham H et al.	2013	PLoS computational biology
23691092	Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.	Eicher JD et al.	2013	PloS one
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics
23844051	Association of CHRNA5-A3-B4 variation with esophageal squamous cell carcinoma risk and smoking behaviors in a Chinese population.	Wang Y et al.	2013	PloS one
24065931	The CHRNA3 rs578776 Variant is Associated with an Intrinsic Reward Sensitivity Deficit in Smokers.	Robinson JD et al.	2013	Frontiers in psychiatry
24254305	Quantitative assessment of the influence of common variations (rs8034191 and rs1051730) at 15q25 and lung cancer risk.	Hu B et al.	2014	Tumour biology
24563194	Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema.	Castaldi PJ et al.	2014	Thorax
24588897	CHRNA5 and CHRNA3 variants and level of neuroticism in young adult Mexican American men and women.	Criado JR et al.	2014	Twin research and human genetics
24686516	CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population.	He P et al.	2014	International journal of molecular sciences
25036316	Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study.	Zhu Y et al.	2014	PloS one
25051068	Four SNPs in the CHRNA3/5 alpha-neuronal nicotinic acetylcholine receptor subunit locus are associated with COPD risk based on meta-analyses.	Cui K et al.	2014	PloS one
25074529	Genetic association between AGPHD1 variant and lung cancer risk.	Wang H et al.	2014	Cell biochemistry and biophysics
25233467	Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.	Tseng TS et al.	2014	PloS one
25288178	The association between the rs6495309 polymorphism in CHRNA3 gene and lung cancer risk in Chinese: a meta-analysis.	Xiao M et al.	2014	Scientific reports
25302169	Acetylcholine receptor pathway in lung cancer: New twists to an old story.	Niu XM et al.	2014	World journal of clinical oncology
25329654	Role of a genetic variant on the 15q25.1 lung cancer susceptibility locus in smoking-associated nasopharyngeal carcinoma.	Ji X et al.	2014	PloS one
25551457	No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects.	Baumert J et al.	2014	PloS one
25642160	Nicotinic receptor modulation to treat alcohol and drug dependence.	Rahman S et al.	2014	Frontiers in neuroscience
25778907	The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains.	Eicher JD et al.	2015	Genes, brain, and behavior
25874685	CHRNA3 rs6495308 genotype as an effect modifier of the association between daily cigarette consumption and hypertension in Chinese male smokers.	Wu XY et al.	2015	International journal of environmental research and public health
26044620	Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.	Reyes-Gibby CC et al.	2015	BMC systems biology
26187382	Jackknife-based gene-gene interactiontests for untyped SNPs.	Song M et al.	2015	BMC genetics
26352532	Lung Cancer Risk Prediction Using Common SNPs Located in GWAS-Identified Susceptibility Regions.	Weissfeld JL et al.	2015	Journal of thoracic oncology
26695521	Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation?	Noyce AJ et al.	2016	Movement disorders
26831765	Association between two CHRNA3 variants and susceptibility of lung cancer: a meta-analysis.	Qu X et al.	2016	Scientific reports
26917578	Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.	Jackson VE et al.	2016	Thorax
26942719	Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males.	Zhang Y et al.	2016	PloS one
26948517	Genetic scores of smoking behaviour in a Chinese population.	Yang S et al.	2016	Scientific reports
26981122	The Oncogenic Functions of Nicotinic Acetylcholine Receptors.	Zhao Y et al.	2016	Journal of oncology
27050379	Genetic variants of CHRNA5-A3 and CHRNB3-A6 predict survival of patients with advanced non-small cell lung cancer.	Wang Y et al.	2016	Oncotarget
27079684	Genome-wide association studies and epigenome-wide association studies go together in cancer control.	Verma M et al.	2016	Future oncology (London, England)
27127891	Association Between CHRNA3 and CHRNA5 Nicotine Receptor Subunit Gene Variants and Nicotine Dependence in an Isolated Populationof Kashubians in Poland.	Kita-Milczarska K et al.	2016	Medical science monitor
27230571	Different dietary patterns and reduction of lung cancer risk: A large case-control study in the U.S.	Tu H et al.	2016	Scientific reports
27294413	Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.	Srivastava AK et al.	2016	Human genomics
27330244	Exploring dependence between categorical variables: Benefits and limitations of using variable selection within Bayesian clustering in relation to log-linear modelling with interaction terms.	Papathomas M et al.	2016	Journal of statistical planning and inference
27424552	Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers.	Pranavchand R et al.	2016	Journal of postgraduate medicine
27694844	An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies.	Liang X et al.	2016	Scientific reports
27805284	Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs.	Zhou F et al.	2017	Molecular carcinogenesis
29110844	Genetic polymorphisms and lung cancer risk: Evidence from meta-analyses and genome-wide association studies.	Liu C et al.	2017	Lung cancer (Amsterdam, Netherlands)
29422661	Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.	Nedeljkovic I et al.	2018	European journal of human genetics
29758381	Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use.	Marees AT et al.	2018	Drug and alcohol dependence
33578531	The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review.	Yi X et al.	2021	Medicine
34319543	Genetic analysis of colorectal carcinoma using high throughput single nucleotide polymorphism genotyping technique within the population of Jammu and Kashmir.	Sharma B et al.	2021	Molecular biology reports
34540891	Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.	Li X et al.	2021	Frontiers in molecular biosciences

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs8034191