Name: rs6601327
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.

rs6601327

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:9538022 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.386465 (118548/306750, ALFA)
G=0.445260 (117856/264690, TOPMED)
G=0.438212 (61276/139832, GnomAD) (+ 22 more)
A=0.49030 (38586/78698, PAGE_STUDY)
A=0.39656 (11206/28258, 14KJPN)
A=0.39612 (6639/16760, 8.3KJPN)
G=0.4849 (3105/6404, 1000G_30x)
G=0.4810 (2409/5008, 1000G)
G=0.3395 (1521/4480, Estonian)
G=0.3991 (1538/3854, ALSPAC)
G=0.3883 (1440/3708, TWINSUK)
A=0.3505 (1027/2930, KOREAN)
G=0.4861 (1013/2084, HGDP_Stanford)
G=0.4915 (925/1882, HapMap)
A=0.3188 (584/1832, Korea1K)
G=0.3662 (416/1136, Daghestan)
G=0.375 (374/998, GoNL)
A=0.377 (296/786, PRJEB37584)
G=0.427 (256/600, NorthernSweden)
G=0.289 (103/356, SGDP_PRJ)
G=0.255 (55/216, Qatari)
A=0.401 (85/212, Vietnamese)
G=0.31 (20/64, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
G=0.28 (10/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 1 citation
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	306750	G=0.386465	A=0.613535	0.154315	0.381385	0.4643	35
European	Sub	268808	G=0.371607	A=0.628393	0.140256	0.397042	0.462702	7
African	Sub	8630	G=0.4941	A=0.5059	0.238934	0.250753	0.510313	1
African Others	Sub	330	G=0.491	A=0.509	0.224242	0.242424	0.533333	0
African American	Sub	8300	G=0.4942	A=0.5058	0.239518	0.251084	0.509398	1
Asian	Sub	3958	G=0.6781	A=0.3219	0.466397	0.110157	0.423446	1
East Asian	Sub	3180	G=0.6575	A=0.3425	0.433962	0.118868	0.44717	0
Other Asian	Sub	778	G=0.762	A=0.238	0.598972	0.07455	0.326478	2
Latin American 1	Sub	1280	G=0.3875	A=0.6125	0.153125	0.378125	0.46875	0
Latin American 2	Sub	9372	G=0.5122	A=0.4878	0.266539	0.242211	0.491251	1
South Asian	Sub	5230	G=0.4721	A=0.5279	0.235182	0.291013	0.473805	4
Other	Sub	9472	G=0.4164	A=0.5836	0.190245	0.357475	0.45228	13

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	306750	G=0.386465	A=0.613535
Allele Frequency Aggregator	European	Sub	268808	G=0.371607	A=0.628393
Allele Frequency Aggregator	Other	Sub	9472	G=0.4164	A=0.5836
Allele Frequency Aggregator	Latin American 2	Sub	9372	G=0.5122	A=0.4878
Allele Frequency Aggregator	African	Sub	8630	G=0.4941	A=0.5059
Allele Frequency Aggregator	South Asian	Sub	5230	G=0.4721	A=0.5279
Allele Frequency Aggregator	Asian	Sub	3958	G=0.6781	A=0.3219
Allele Frequency Aggregator	Latin American 1	Sub	1280	G=0.3875	A=0.6125
TopMed	Global	Study-wide	264690	G=0.445260	A=0.554740
gnomAD - Genomes	Global	Study-wide	139832	G=0.438212	A=0.561788
gnomAD - Genomes	European	Sub	75794	G=0.39734	A=0.60266
gnomAD - Genomes	African	Sub	41840	G=0.49603	A=0.50397
gnomAD - Genomes	American	Sub	13614	G=0.47613	A=0.52387
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.2830	A=0.7170
gnomAD - Genomes	East Asian	Sub	3118	G=0.6562	A=0.3438
gnomAD - Genomes	Other	Sub	2144	G=0.4375	A=0.5625
The PAGE Study	Global	Study-wide	78698	G=0.50970	A=0.49030
The PAGE Study	AfricanAmerican	Sub	32514	G=0.49037	A=0.50963
The PAGE Study	Mexican	Sub	10808	G=0.50037	A=0.49963
The PAGE Study	Asian	Sub	8318	G=0.6108	A=0.3892
The PAGE Study	PuertoRican	Sub	7918	G=0.4538	A=0.5462
The PAGE Study	NativeHawaiian	Sub	4534	G=0.6875	A=0.3125
The PAGE Study	Cuban	Sub	4230	G=0.4168	A=0.5832
The PAGE Study	Dominican	Sub	3828	G=0.5016	A=0.4984
The PAGE Study	CentralAmerican	Sub	2450	G=0.5298	A=0.4702
The PAGE Study	SouthAmerican	Sub	1982	G=0.5272	A=0.4728
The PAGE Study	NativeAmerican	Sub	1260	G=0.4373	A=0.5627
The PAGE Study	SouthAsian	Sub	856	G=0.458	A=0.542
14KJPN	JAPANESE	Study-wide	28258	G=0.60344	A=0.39656
8.3KJPN	JAPANESE	Study-wide	16760	G=0.60388	A=0.39612
1000Genomes_30x	Global	Study-wide	6404	G=0.4849	A=0.5151
1000Genomes_30x	African	Sub	1786	G=0.4888	A=0.5112
1000Genomes_30x	Europe	Sub	1266	G=0.3515	A=0.6485
1000Genomes_30x	South Asian	Sub	1202	G=0.4334	A=0.5666
1000Genomes_30x	East Asian	Sub	1170	G=0.6547	A=0.3453
1000Genomes_30x	American	Sub	980	G=0.510	A=0.490
1000Genomes	Global	Study-wide	5008	G=0.4810	A=0.5190
1000Genomes	African	Sub	1322	G=0.4826	A=0.5174
1000Genomes	East Asian	Sub	1008	G=0.6528	A=0.3472
1000Genomes	Europe	Sub	1006	G=0.3509	A=0.6491
1000Genomes	South Asian	Sub	978	G=0.430	A=0.570
1000Genomes	American	Sub	694	G=0.488	A=0.512
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3395	A=0.6605
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3991	A=0.6009
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3883	A=0.6117
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6495	A=0.3505, C=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.4861	A=0.5139
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.615	A=0.385
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.415	A=0.585
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.320	A=0.680
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.322	A=0.678
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.624	A=0.376
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.579	A=0.421
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.85	A=0.15
HapMap	Global	Study-wide	1882	G=0.4915	A=0.5085
HapMap	American	Sub	766	G=0.474	A=0.526
HapMap	African	Sub	690	G=0.517	A=0.483
HapMap	Asian	Sub	250	G=0.624	A=0.376
HapMap	Europe	Sub	176	G=0.278	A=0.722
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6812	A=0.3188
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	G=0.3662	A=0.6338
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.349	A=0.651
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.354	A=0.646
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.467	A=0.533
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.370	A=0.630
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.40	A=0.60
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.28	A=0.72
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.375	A=0.625
CNV burdens in cranial meningiomas	Global	Study-wide	786	G=0.623	A=0.377
CNV burdens in cranial meningiomas	CRM	Sub	786	G=0.623	A=0.377
Northern Sweden	ACPOP	Study-wide	600	G=0.427	A=0.573
SGDP_PRJ	Global	Study-wide	356	G=0.289	A=0.711
Qatari	Global	Study-wide	216	G=0.255	A=0.745
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.599	A=0.401
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	G=0.31	A=0.69
The Danish reference pan genome	Danish	Study-wide	40	G=0.47	A=0.53
Siberian	Global	Study-wide	36	G=0.28	A=0.72

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 8	NC_000008.11:g.9538022G>A
GRCh38.p14 chr 8	NC_000008.11:g.9538022G>C
GRCh37.p13 chr 8	NC_000008.10:g.9395532G>A
GRCh37.p13 chr 8	NC_000008.10:g.9395532G>C
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.3813466T>C
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.3813466T>G

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	G=	A	C
GRCh38.p14 chr 8	NC_000008.11:g.9538022=	NC_000008.11:g.9538022G>A	NC_000008.11:g.9538022G>C
GRCh37.p13 chr 8	NC_000008.10:g.9395532=	NC_000008.10:g.9395532G>A	NC_000008.10:g.9395532G>C
GRCh38.p14 chr 8 fix patch HG76_PATCH	NW_018654717.1:g.3813466T>C	NW_018654717.1:g.3813466=	NW_018654717.1:g.3813466T>G

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#.

144 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10468035	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11952517	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss20345240	Feb 27, 2004 (120)
4	PERLEGEN	ss24388264	Sep 20, 2004 (123)
5	ABI	ss44918442	Mar 15, 2006 (126)
6	ILLUMINA	ss66720740	Dec 01, 2006 (127)
7	ILLUMINA	ss67478285	Dec 01, 2006 (127)
8	ILLUMINA	ss67834653	Dec 01, 2006 (127)
9	PERLEGEN	ss69039098	May 18, 2007 (127)
10	ILLUMINA	ss70876305	May 25, 2008 (130)
11	ILLUMINA	ss71466078	May 18, 2007 (127)
12	ILLUMINA	ss75673893	Dec 06, 2007 (129)
13	AFFY	ss76557070	Dec 08, 2007 (130)
14	HGSV	ss78379147	Dec 06, 2007 (129)
15	ILLUMINA	ss79227814	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss84513748	Dec 15, 2007 (130)
17	HGSV	ss85577349	Dec 15, 2007 (130)
18	HUMANGENOME_JCVI	ss98046457	Feb 05, 2009 (130)
19	1000GENOMES	ss112798712	Jan 25, 2009 (130)
20	1000GENOMES	ss114922473	Jan 25, 2009 (130)
21	ILLUMINA-UK	ss115842206	Feb 14, 2009 (130)
22	ILLUMINA	ss122582241	Dec 01, 2009 (131)
23	ENSEMBL	ss133529954	Dec 01, 2009 (131)
24	ILLUMINA	ss154371695	Dec 01, 2009 (131)
25	ILLUMINA	ss159547779	Dec 01, 2009 (131)
26	ILLUMINA	ss160791630	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss162114065	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss163878965	Jul 04, 2010 (132)
29	ILLUMINA	ss172160653	Jul 04, 2010 (132)
30	ILLUMINA	ss174046608	Jul 04, 2010 (132)
31	BUSHMAN	ss198744183	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss206511537	Jul 04, 2010 (132)
33	1000GENOMES	ss223521997	Jul 14, 2010 (132)
34	1000GENOMES	ss234305354	Jul 15, 2010 (132)
35	1000GENOMES	ss241190773	Jul 15, 2010 (132)
36	BL	ss254073846	May 09, 2011 (134)
37	GMI	ss279676657	May 04, 2012 (137)
38	GMI	ss285784942	Apr 25, 2013 (138)
39	PJP	ss294141196	May 09, 2011 (134)
40	ILLUMINA	ss410942289	Sep 17, 2011 (135)
41	ILLUMINA	ss481297813	May 04, 2012 (137)
42	ILLUMINA	ss481322626	May 04, 2012 (137)
43	ILLUMINA	ss482305195	Sep 08, 2015 (146)
44	ILLUMINA	ss485444139	May 04, 2012 (137)
45	ILLUMINA	ss537370167	Sep 08, 2015 (146)
46	TISHKOFF	ss560525439	Apr 25, 2013 (138)
47	SSMP	ss654955742	Apr 25, 2013 (138)
48	ILLUMINA	ss779046183	Sep 08, 2015 (146)
49	ILLUMINA	ss783167523	Sep 08, 2015 (146)
50	ILLUMINA	ss784123150	Sep 08, 2015 (146)
51	ILLUMINA	ss825558332	Apr 01, 2015 (144)
52	ILLUMINA	ss832426999	Sep 08, 2015 (146)
53	ILLUMINA	ss833058966	Jul 13, 2019 (153)
54	ILLUMINA	ss834509091	Sep 08, 2015 (146)
55	EVA-GONL	ss985157340	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1075247358	Aug 21, 2014 (142)
57	1000GENOMES	ss1328478960	Aug 21, 2014 (142)
58	HAMMER_LAB	ss1397516131	Sep 08, 2015 (146)
59	DDI	ss1431401964	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1582543706	Apr 01, 2015 (144)
61	EVA_DECODE	ss1594743976	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1619905665	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1662899698	Apr 01, 2015 (144)
64	EVA_SVP	ss1713012352	Apr 01, 2015 (144)
65	ILLUMINA	ss1752746544	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1805382432	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1928440507	Feb 12, 2016 (147)
68	ILLUMINA	ss1946228964	Feb 12, 2016 (147)
69	ILLUMINA	ss1959084563	Feb 12, 2016 (147)
70	GENOMED	ss1970899624	Jul 19, 2016 (147)
71	JJLAB	ss2024912661	Sep 14, 2016 (149)
72	ILLUMINA	ss2094832682	Dec 20, 2016 (150)
73	ILLUMINA	ss2095205656	Dec 20, 2016 (150)
74	USC_VALOUEV	ss2153138147	Dec 20, 2016 (150)
75	HUMAN_LONGEVITY	ss2300440612	Dec 20, 2016 (150)
76	SYSTEMSBIOZJU	ss2626943721	Nov 08, 2017 (151)
77	ILLUMINA	ss2634705385	Nov 08, 2017 (151)
78	GRF	ss2708891298	Nov 08, 2017 (151)
79	ILLUMINA	ss2711129337	Nov 08, 2017 (151)
80	GNOMAD	ss2862898333	Nov 08, 2017 (151)
81	AFFY	ss2985430400	Nov 08, 2017 (151)
82	AFFY	ss2986072653	Nov 08, 2017 (151)
83	SWEGEN	ss3002619332	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3026246178	Nov 08, 2017 (151)
85	CSHL	ss3348024517	Nov 08, 2017 (151)
86	ILLUMINA	ss3625945001	Oct 12, 2018 (152)
87	ILLUMINA	ss3629989220	Oct 12, 2018 (152)
88	ILLUMINA	ss3632606827	Oct 12, 2018 (152)
89	ILLUMINA	ss3633489585	Oct 12, 2018 (152)
90	ILLUMINA	ss3634215850	Oct 12, 2018 (152)
91	ILLUMINA	ss3635157003	Oct 12, 2018 (152)
92	ILLUMINA	ss3635894948	Oct 12, 2018 (152)
93	ILLUMINA	ss3636893182	Oct 12, 2018 (152)
94	ILLUMINA	ss3637648055	Oct 12, 2018 (152)
95	ILLUMINA	ss3638742057	Oct 12, 2018 (152)
96	ILLUMINA	ss3639372925	Oct 12, 2018 (152)
97	ILLUMINA	ss3639715479	Oct 12, 2018 (152)
98	ILLUMINA	ss3640864293	Oct 12, 2018 (152)
99	ILLUMINA	ss3641223559	Oct 12, 2018 (152)
100	ILLUMINA	ss3641521175	Oct 12, 2018 (152)
101	ILLUMINA	ss3643674513	Oct 12, 2018 (152)
102	ILLUMINA	ss3644962130	Oct 12, 2018 (152)
103	URBANLAB	ss3648839934	Oct 12, 2018 (152)
104	ILLUMINA	ss3653353238	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3670314045	Jul 13, 2019 (153)
106	EVA_DECODE	ss3721349424	Jul 13, 2019 (153)
107	ACPOP	ss3735370077	Jul 13, 2019 (153)
108	ILLUMINA	ss3744301241	Jul 13, 2019 (153)
109	ILLUMINA	ss3745456844	Jul 13, 2019 (153)
110	EVA	ss3767580864	Jul 13, 2019 (153)
111	PAGE_CC	ss3771421651	Jul 13, 2019 (153)
112	ILLUMINA	ss3772949490	Jul 13, 2019 (153)
113	PACBIO	ss3786054173	Jul 13, 2019 (153)
114	PACBIO	ss3791323608	Jul 13, 2019 (153)
115	PACBIO	ss3796204668	Jul 13, 2019 (153)
116	KHV_HUMAN_GENOMES	ss3810742818	Jul 13, 2019 (153)
117	EVA	ss3830995380	Apr 26, 2020 (154)
118	EVA	ss3839003971	Apr 26, 2020 (154)
119	EVA	ss3844463035	Apr 26, 2020 (154)
120	HGDP	ss3847902441	Apr 26, 2020 (154)
121	SGDP_PRJ	ss3869191789	Apr 26, 2020 (154)
122	KRGDB	ss3916609695	Apr 26, 2020 (154)
123	KOGIC	ss3963198153	Apr 26, 2020 (154)
124	EVA	ss3984600482	Apr 26, 2021 (155)
125	EVA	ss3985340981	Apr 26, 2021 (155)
126	EVA	ss4017374680	Apr 26, 2021 (155)
127	TOPMED	ss4774615852	Apr 26, 2021 (155)
128	TOMMO_GENOMICS	ss5187167288	Apr 26, 2021 (155)
129	1000G_HIGH_COVERAGE	ss5275951870	Oct 14, 2022 (156)
130	EVA	ss5315307098	Oct 14, 2022 (156)
131	EVA	ss5378957340	Oct 14, 2022 (156)
132	HUGCELL_USP	ss5472648041	Oct 14, 2022 (156)
133	EVA	ss5509235638	Oct 14, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5565678095	Oct 14, 2022 (156)
135	SANFORD_IMAGENETICS	ss5624684907	Oct 14, 2022 (156)
136	SANFORD_IMAGENETICS	ss5644697627	Oct 14, 2022 (156)
137	TOMMO_GENOMICS	ss5728650856	Oct 14, 2022 (156)
138	EVA	ss5799746838	Oct 14, 2022 (156)
139	YY_MCH	ss5809414692	Oct 14, 2022 (156)
140	EVA	ss5830074383	Oct 14, 2022 (156)
141	EVA	ss5848166086	Oct 14, 2022 (156)
142	EVA	ss5856238560	Oct 14, 2022 (156)
143	EVA	ss5887597448	Oct 14, 2022 (156)
144	EVA	ss5973879414	Oct 14, 2022 (156)
145	1000Genomes	NC_000008.10 - 9395532	Oct 12, 2018 (152)
146	1000Genomes_30x	NC_000008.11 - 9538022	Oct 14, 2022 (156)
147	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 9395532	Oct 12, 2018 (152)
148	Genome-wide autozygosity in Daghestan	NC_000008.9 - 9432942	Apr 26, 2020 (154)
149	Genetic variation in the Estonian population	NC_000008.10 - 9395532	Oct 12, 2018 (152)
150	The Danish reference pan genome	NC_000008.10 - 9395532	Apr 26, 2020 (154)
151	gnomAD - Genomes	NC_000008.11 - 9538022	Apr 26, 2021 (155)
152	Genome of the Netherlands Release 5	NC_000008.10 - 9395532	Apr 26, 2020 (154)
153	HGDP-CEPH-db Supplement 1	NC_000008.9 - 9432942	Apr 26, 2020 (154)
154	HapMap	NC_000008.11 - 9538022	Apr 26, 2020 (154)
155	KOREAN population from KRGDB	NC_000008.10 - 9395532	Apr 26, 2020 (154)
156	Korean Genome Project	NC_000008.11 - 9538022	Apr 26, 2020 (154)
157	Northern Sweden	NC_000008.10 - 9395532	Jul 13, 2019 (153)
158	The PAGE Study	NC_000008.11 - 9538022	Jul 13, 2019 (153)
159	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 9395532	Apr 26, 2021 (155)
160	CNV burdens in cranial meningiomas	NC_000008.10 - 9395532	Apr 26, 2021 (155)
161	Qatari	NC_000008.10 - 9395532	Apr 26, 2020 (154)
162	SGDP_PRJ	NC_000008.10 - 9395532	Apr 26, 2020 (154)
163	Siberian	NC_000008.10 - 9395532	Apr 26, 2020 (154)
164	8.3KJPN	NC_000008.10 - 9395532	Apr 26, 2021 (155)
165	14KJPN	NC_000008.11 - 9538022	Oct 14, 2022 (156)
166	TopMed	NC_000008.11 - 9538022	Apr 26, 2021 (155)
167	UK 10K study - Twins	NC_000008.10 - 9395532	Oct 12, 2018 (152)
168	A Vietnamese Genetic Variation Database	NC_000008.10 - 9395532	Jul 13, 2019 (153)
169	ALFA	NC_000008.11 - 9538022	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)
rs17676875	Oct 08, 2004 (123)
rs56492942	May 25, 2008 (130)
rs58893578	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
490069, 580333, ss78379147, ss85577349, ss112798712, ss114922473, ss115842206, ss162114065, ss163878965, ss198744183, ss206511537, ss254073846, ss279676657, ss285784942, ss294141196, ss481297813, ss825558332, ss1397516131, ss1594743976, ss1713012352, ss3639372925, ss3639715479, ss3643674513, ss3847902441	NC_000008.9:9432941:G:A	NC_000008.11:9538021:G:A	(self)
40563275, 22552286, 16052293, 8708644, 10074465, 23787089, 8654942, 566908, 149916, 10482437, 21208769, 5654501, 45136595, 22552286, 5023723, ss223521997, ss234305354, ss241190773, ss481322626, ss482305195, ss485444139, ss537370167, ss560525439, ss654955742, ss779046183, ss783167523, ss784123150, ss832426999, ss833058966, ss834509091, ss985157340, ss1075247358, ss1328478960, ss1431401964, ss1582543706, ss1619905665, ss1662899698, ss1752746544, ss1805382432, ss1928440507, ss1946228964, ss1959084563, ss1970899624, ss2024912661, ss2094832682, ss2095205656, ss2153138147, ss2626943721, ss2634705385, ss2708891298, ss2711129337, ss2862898333, ss2985430400, ss2986072653, ss3002619332, ss3348024517, ss3625945001, ss3629989220, ss3632606827, ss3633489585, ss3634215850, ss3635157003, ss3635894948, ss3636893182, ss3637648055, ss3638742057, ss3640864293, ss3641223559, ss3641521175, ss3644962130, ss3653353238, ss3670314045, ss3735370077, ss3744301241, ss3745456844, ss3767580864, ss3772949490, ss3786054173, ss3791323608, ss3796204668, ss3830995380, ss3839003971, ss3869191789, ss3916609695, ss3984600482, ss3985340981, ss4017374680, ss5187167288, ss5315307098, ss5378957340, ss5509235638, ss5624684907, ss5644697627, ss5799746838, ss5830074383, ss5848166086, ss5973879414	NC_000008.10:9395531:G:A	NC_000008.11:9538021:G:A	(self)
53204030, 286158962, 3558161, 19576154, 643120, 62487960, 611993412, 3356845579, ss2300440612, ss3026246178, ss3648839934, ss3721349424, ss3771421651, ss3810742818, ss3844463035, ss3963198153, ss4774615852, ss5275951870, ss5472648041, ss5565678095, ss5728650856, ss5809414692, ss5856238560, ss5887597448	NC_000008.11:9538021:G:A	NC_000008.11:9538021:G:A	(self)
ss10468035, ss11952517	NT_077531.2:1705564:G:A	NC_000008.11:9538021:G:A	(self)
ss20345240	NT_077531.3:1870882:G:A	NC_000008.11:9538021:G:A	(self)
ss24388264, ss44918442, ss66720740, ss67478285, ss67834653, ss69039098, ss70876305, ss71466078, ss75673893, ss76557070, ss79227814, ss84513748, ss98046457, ss122582241, ss133529954, ss154371695, ss159547779, ss160791630, ss172160653, ss174046608, ss410942289	NT_077531.4:1870882:G:A	NC_000008.11:9538021:G:A	(self)
23787089, ss3916609695	NC_000008.10:9395531:G:C	NC_000008.11:9538021:G:C	(self)

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

1 citation for rs6601327

PMID	Title	Author	Year	Journal
20937264	Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study.	Zee RY et al.	2011	Clinica chimica acta; international journal of clinical chemistry

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6601327