Name: rs653178
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.

rs653178

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:111569952 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.310529 (82194/264690, TOPMED)
C=0.449215 (112001/249326, ALFA)
C=0.333429 (46688/140024, GnomAD) (+ 22 more)
C=0.16115 (12683/78702, PAGE_STUDY)
C=0.00004 (1/28258, 14KJPN)
C=0.00000 (0/16760, 8.3KJPN)
C=0.1483 (950/6404, 1000G_30x)
C=0.1474 (738/5008, 1000G)
C=0.4462 (1999/4480, Estonian)
C=0.4510 (1738/3854, ALSPAC)
C=0.4873 (1807/3708, TWINSUK)
C=0.0003 (1/2930, KOREAN)
C=0.1684 (351/2084, HGDP_Stanford)
C=0.0000 (0/1832, Korea1K)
C=0.3104 (352/1134, Daghestan)
C=0.466 (465/998, GoNL)
C=0.254 (250/984, HapMap)
C=0.003 (2/792, PRJEB37584)
C=0.435 (261/600, NorthernSweden)
C=0.091 (48/526, SGDP_PRJ)
C=0.190 (41/216, Qatari)
C=0.000 (0/216, Vietnamese)
C=0.40 (28/70, Ancient Sardinia)
C=0.13 (7/54, Siberian)
C=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATXN2 : Intron Variant
Publications: 59 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	253280	C=0.450036	T=0.549964	0.220602	0.320531	0.458868	32
European	Sub	216676	C=0.496866	T=0.503134	0.247429	0.253697	0.498874	0
African	Sub	9230	C=0.0811	T=0.9189	0.008884	0.846587	0.144529	3
African Others	Sub	320	C=0.003	T=0.997	0.0	0.99375	0.00625	0
African American	Sub	8910	C=0.0840	T=0.9160	0.009203	0.841302	0.149495	2
Asian	Sub	6464	C=0.0009	T=0.9991	0.0	0.998144	0.001856	0
East Asian	Sub	4600	C=0.0004	T=0.9996	0.0	0.99913	0.00087	0
Other Asian	Sub	1864	C=0.0021	T=0.9979	0.0	0.995708	0.004292	0
Latin American 1	Sub	658	C=0.336	T=0.664	0.12766	0.455927	0.416413	1
Latin American 2	Sub	2888	C=0.2625	T=0.7375	0.070637	0.545706	0.383657	0
South Asian	Sub	5152	C=0.1217	T=0.8783	0.018634	0.775233	0.206134	2
Other	Sub	12212	C=0.32468	T=0.67532	0.147068	0.497707	0.355224	32

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
TopMed	Global	Study-wide	264690	C=0.310529	T=0.689471
Allele Frequency Aggregator	Total	Global	249326	C=0.449215	T=0.550785
Allele Frequency Aggregator	European	Sub	212968	C=0.496741	T=0.503259
Allele Frequency Aggregator	Other	Sub	11968	C=0.32169	T=0.67831
Allele Frequency Aggregator	African	Sub	9228	C=0.0812	T=0.9188
Allele Frequency Aggregator	Asian	Sub	6464	C=0.0009	T=0.9991
Allele Frequency Aggregator	South Asian	Sub	5152	C=0.1217	T=0.8783
Allele Frequency Aggregator	Latin American 2	Sub	2888	C=0.2625	T=0.7375
Allele Frequency Aggregator	Latin American 1	Sub	658	C=0.336	T=0.664
gnomAD - Genomes	Global	Study-wide	140024	C=0.333429	T=0.666571
gnomAD - Genomes	European	Sub	75820	C=0.47607	T=0.52393
gnomAD - Genomes	African	Sub	41984	C=0.08553	T=0.91447
gnomAD - Genomes	American	Sub	13620	C=0.29501	T=0.70499
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6707	T=0.3293
gnomAD - Genomes	East Asian	Sub	3128	C=0.0006	T=0.9994
gnomAD - Genomes	Other	Sub	2150	C=0.3502	T=0.6498
The PAGE Study	Global	Study-wide	78702	C=0.16115	T=0.83885
The PAGE Study	AfricanAmerican	Sub	32516	C=0.09346	T=0.90654
The PAGE Study	Mexican	Sub	10810	C=0.24015	T=0.75985
The PAGE Study	Asian	Sub	8318	C=0.0030	T=0.9970
The PAGE Study	PuertoRican	Sub	7918	C=0.3133	T=0.6867
The PAGE Study	NativeHawaiian	Sub	4534	C=0.1251	T=0.8749
The PAGE Study	Cuban	Sub	4230	C=0.3638	T=0.6362
The PAGE Study	Dominican	Sub	3828	C=0.2497	T=0.7503
The PAGE Study	CentralAmerican	Sub	2450	C=0.2008	T=0.7992
The PAGE Study	SouthAmerican	Sub	1982	C=0.2417	T=0.7583
The PAGE Study	NativeAmerican	Sub	1260	C=0.3468	T=0.6532
The PAGE Study	SouthAsian	Sub	856	C=0.084	T=0.916
14KJPN	JAPANESE	Study-wide	28258	C=0.00004	T=0.99996
8.3KJPN	JAPANESE	Study-wide	16760	C=0.00000	T=1.00000
1000Genomes_30x	Global	Study-wide	6404	C=0.1483	T=0.8517
1000Genomes_30x	African	Sub	1786	C=0.0174	T=0.9826
1000Genomes_30x	Europe	Sub	1266	C=0.4613	T=0.5387
1000Genomes_30x	South Asian	Sub	1202	C=0.0616	T=0.9384
1000Genomes_30x	East Asian	Sub	1170	C=0.0034	T=0.9966
1000Genomes_30x	American	Sub	980	C=0.262	T=0.738
1000Genomes	Global	Study-wide	5008	C=0.1474	T=0.8526
1000Genomes	African	Sub	1322	C=0.0189	T=0.9811
1000Genomes	East Asian	Sub	1008	C=0.0030	T=0.9970
1000Genomes	Europe	Sub	1006	C=0.4662	T=0.5338
1000Genomes	South Asian	Sub	978	C=0.067	T=0.933
1000Genomes	American	Sub	694	C=0.252	T=0.748
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4462	T=0.5538
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4510	T=0.5490
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4873	T=0.5127
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0003	G=0.0000, T=0.9997
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.1684	T=0.8316
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.015	T=0.985
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.159	T=0.841
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.374	T=0.626
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.438	T=0.562
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.008	T=0.992
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.023	T=0.977
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.00	T=1.00
Korean Genome Project	KOREAN	Study-wide	1832	C=0.0000	T=1.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.3104	T=0.6896
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.334	T=0.666
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.285	T=0.715
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.213	T=0.787
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.481	T=0.519
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.05	T=0.95
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.53	T=0.47
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.466	T=0.534
HapMap	Global	Study-wide	984	C=0.254	T=0.746
HapMap	American	Sub	600	C=0.260	T=0.740
HapMap	Europe	Sub	176	C=0.534	T=0.466
HapMap	African	Sub	120	C=0.000	T=1.000
HapMap	Asian	Sub	88	C=0.00	T=1.00
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.003	T=0.997
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.003	T=0.997
Northern Sweden	ACPOP	Study-wide	600	C=0.435	T=0.565
SGDP_PRJ	Global	Study-wide	526	C=0.091	T=0.909
Qatari	Global	Study-wide	216	C=0.190	T=0.810
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.000	T=1.000
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	C=0.40	T=0.60
Siberian	Global	Study-wide	54	C=0.13	T=0.87
The Danish reference pan genome	Danish	Study-wide	40	C=0.45	T=0.55

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 12	NC_000012.12:g.111569952C>G
GRCh38.p14 chr 12	NC_000012.12:g.111569952C>T
GRCh37.p13 chr 12	NC_000012.11:g.112007756C>G
GRCh37.p13 chr 12	NC_000012.11:g.112007756C>T
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.34725G>C
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.34725G>A

Gene: ATXN2, ataxin 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATXN2 transcript variant 2	NM_001310121.1:c.-64-1403… NM_001310121.1:c.-64-14033G>C	N/A	Intron Variant
ATXN2 transcript variant 3	NM_001310123.1:c.-27-1573… NM_001310123.1:c.-27-15735G>C	N/A	Intron Variant
ATXN2 transcript variant 5	NM_001372574.1:c.252-1403… NM_001372574.1:c.252-14033G>C	N/A	Intron Variant
ATXN2 transcript variant 1	NM_002973.4:c.252-14033G>C	N/A	Intron Variant
ATXN2 transcript variant 4	NR_132311.2:n.	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	C=	G	T
GRCh38.p14 chr 12	NC_000012.12:g.111569952=	NC_000012.12:g.111569952C>G	NC_000012.12:g.111569952C>T
GRCh37.p13 chr 12	NC_000012.11:g.112007756=	NC_000012.11:g.112007756C>G	NC_000012.11:g.112007756C>T
ATXN2 RefSeqGene (LRG_864)	NG_011572.3:g.34725=	NG_011572.3:g.34725G>C	NG_011572.3:g.34725G>A
ATXN2 transcript variant 2	NM_001310121.1:c.-64-14033=	NM_001310121.1:c.-64-14033G>C	NM_001310121.1:c.-64-14033G>A
ATXN2 transcript variant 3	NM_001310123.1:c.-27-15735=	NM_001310123.1:c.-27-15735G>C	NM_001310123.1:c.-27-15735G>A
ATXN2 transcript variant 5	NM_001372574.1:c.252-14033=	NM_001372574.1:c.252-14033G>C	NM_001372574.1:c.252-14033G>A
ATXN2 transcript variant 1	NM_002973.3:c.732-14033=	NM_002973.3:c.732-14033G>C	NM_002973.3:c.732-14033G>A
ATXN2 transcript variant 1	NM_002973.4:c.252-14033=	NM_002973.4:c.252-14033G>C	NM_002973.4:c.252-14033G>A
ATXN2 transcript variant X1	XM_005253924.1:c.252-14033=	XM_005253924.1:c.252-14033G>C	XM_005253924.1:c.252-14033G>A
ATXN2 transcript variant X2	XM_005253925.1:c.-64-14033=	XM_005253925.1:c.-64-14033G>C	XM_005253925.1:c.-64-14033G>A

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#.

148 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss826183	Aug 11, 2000 (83)
2	KWOK	ss1211981	Oct 04, 2000 (86)
3	KWOK	ss1953473	Oct 18, 2000 (87)
4	WI_SSAHASNP	ss6574927	Feb 20, 2003 (111)
5	SC_SNP	ss15655495	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss16579296	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss19942562	Feb 27, 2004 (120)
8	SSAHASNP	ss20961396	Apr 05, 2004 (121)
9	ABI	ss38970233	Mar 14, 2006 (126)
10	ILLUMINA	ss66655334	Nov 30, 2006 (127)
11	ILLUMINA	ss67467468	Nov 30, 2006 (127)
12	ILLUMINA	ss67821935	Nov 30, 2006 (127)
13	ILLUMINA	ss70870870	May 26, 2008 (130)
14	ILLUMINA	ss71459717	May 17, 2007 (127)
15	ILLUMINA	ss75534472	Dec 06, 2007 (129)
16	AFFY	ss76431387	Dec 06, 2007 (129)
17	ILLUMINA	ss79224449	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss83508612	Dec 15, 2007 (130)
19	HGSV	ss83905028	Dec 15, 2007 (130)
20	HGSV	ss85815351	Dec 15, 2007 (130)
21	BCMHGSC_JDW	ss89389346	Mar 24, 2008 (129)
22	HUMANGENOME_JCVI	ss97341413	Feb 06, 2009 (130)
23	BGI	ss105122313	Dec 01, 2009 (131)
24	1000GENOMES	ss112444205	Jan 25, 2009 (130)
25	1000GENOMES	ss114108802	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss119715668	Dec 01, 2009 (131)
27	ILLUMINA	ss122562110	Dec 01, 2009 (131)
28	ENSEMBL	ss132063172	Dec 01, 2009 (131)
29	ENSEMBL	ss133363687	Dec 01, 2009 (131)
30	ILLUMINA	ss154366100	Dec 01, 2009 (131)
31	GMI	ss157912984	Dec 01, 2009 (131)
32	ILLUMINA	ss159542266	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss168718686	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss170883629	Jul 04, 2010 (132)
35	ILLUMINA	ss172142905	Jul 04, 2010 (132)
36	ILLUMINA	ss174026544	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss175268139	Jul 04, 2010 (132)
38	BUSHMAN	ss198695704	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss208165544	Jul 04, 2010 (132)
40	1000GENOMES	ss225963561	Jul 14, 2010 (132)
41	1000GENOMES	ss236090116	Jul 15, 2010 (132)
42	1000GENOMES	ss242616883	Jul 15, 2010 (132)
43	BL	ss255347310	May 09, 2011 (134)
44	GMI	ss281548986	May 04, 2012 (137)
45	GMI	ss286627480	Apr 25, 2013 (138)
46	PJP	ss291341204	May 09, 2011 (134)
47	ILLUMINA	ss410941605	Sep 17, 2011 (135)
48	PAGE_STUDY	ss469415397	May 04, 2012 (137)
49	PAGE_STUDY	ss469996517	May 04, 2012 (137)
50	EXOME_CHIP	ss491473787	May 04, 2012 (137)
51	ILLUMINA	ss537360668	Sep 08, 2015 (146)
52	TISHKOFF	ss563407573	Apr 25, 2013 (138)
53	SSMP	ss658990457	Apr 25, 2013 (138)
54	ILLUMINA	ss780685886	Aug 21, 2014 (142)
55	ILLUMINA	ss783359390	Aug 21, 2014 (142)
56	ILLUMINA	ss825554967	Jul 19, 2016 (147)
57	ILLUMINA	ss833053469	Aug 21, 2014 (142)
58	ILLUMINA	ss833644297	Aug 21, 2014 (142)
59	EVA-GONL	ss989963907	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1078773745	Aug 21, 2014 (142)
61	1000GENOMES	ss1346655911	Aug 21, 2014 (142)
62	HAMMER_LAB	ss1397645697	Sep 08, 2015 (146)
63	DDI	ss1427055400	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1576528086	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1629455778	Apr 01, 2015 (144)
66	EVA_DECODE	ss1642069603	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1672449811	Apr 01, 2015 (144)
68	EVA_SVP	ss1713358401	Apr 01, 2015 (144)
69	ILLUMINA	ss1752046618	Sep 08, 2015 (146)
70	HAMMER_LAB	ss1807421928	Sep 08, 2015 (146)
71	ILLUMINA	ss1917878905	Feb 12, 2016 (147)
72	WEILL_CORNELL_DGM	ss1933317261	Feb 12, 2016 (147)
73	ILLUMINA	ss1946349972	Feb 12, 2016 (147)
74	ILLUMINA	ss1959466523	Feb 12, 2016 (147)
75	GENOMED	ss1967682872	Jul 19, 2016 (147)
76	JJLAB	ss2027415922	Sep 14, 2016 (149)
77	ILLUMINA	ss2094876806	Dec 20, 2016 (150)
78	ILLUMINA	ss2095039468	Dec 20, 2016 (150)
79	ILLUMINA	ss2095039469	Dec 20, 2016 (150)
80	USC_VALOUEV	ss2155765026	Dec 20, 2016 (150)
81	HUMAN_LONGEVITY	ss2193225411	Dec 20, 2016 (150)
82	SYSTEMSBIOZJU	ss2628189173	Nov 08, 2017 (151)
83	ILLUMINA	ss2633009175	Nov 08, 2017 (151)
84	ILLUMINA	ss2633009176	Nov 08, 2017 (151)
85	GRF	ss2700122696	Nov 08, 2017 (151)
86	ILLUMINA	ss2710770880	Nov 08, 2017 (151)
87	GNOMAD	ss2915228403	Nov 08, 2017 (151)
88	AFFY	ss2984991183	Nov 08, 2017 (151)
89	AFFY	ss2985627211	Nov 08, 2017 (151)
90	SWEGEN	ss3010355272	Nov 08, 2017 (151)
91	ILLUMINA	ss3021466749	Nov 08, 2017 (151)
92	BIOINF_KMB_FNS_UNIBA	ss3027517951	Nov 08, 2017 (151)
93	CSHL	ss3350251528	Nov 08, 2017 (151)
94	ILLUMINA	ss3626969976	Oct 12, 2018 (152)
95	ILLUMINA	ss3626969977	Oct 12, 2018 (152)
96	ILLUMINA	ss3634523955	Oct 12, 2018 (152)
97	ILLUMINA	ss3637987194	Oct 12, 2018 (152)
98	ILLUMINA	ss3639006561	Oct 12, 2018 (152)
99	ILLUMINA	ss3639506182	Oct 12, 2018 (152)
100	ILLUMINA	ss3640231288	Oct 12, 2018 (152)
101	ILLUMINA	ss3642978780	Oct 12, 2018 (152)
102	ILLUMINA	ss3644602979	Oct 12, 2018 (152)
103	URBANLAB	ss3649923323	Oct 12, 2018 (152)
104	ILLUMINA	ss3651848940	Oct 12, 2018 (152)
105	ILLUMINA	ss3651848941	Oct 12, 2018 (152)
106	ILLUMINA	ss3651848942	Oct 12, 2018 (152)
107	ILLUMINA	ss3653761077	Oct 12, 2018 (152)
108	EGCUT_WGS	ss3677655817	Jul 13, 2019 (153)
109	EVA_DECODE	ss3694474563	Jul 13, 2019 (153)
110	ILLUMINA	ss3725357843	Jul 13, 2019 (153)
111	ACPOP	ss3739385981	Jul 13, 2019 (153)
112	ILLUMINA	ss3744401112	Jul 13, 2019 (153)
113	ILLUMINA	ss3744824770	Jul 13, 2019 (153)
114	EVA	ss3750970541	Jul 13, 2019 (153)
115	PAGE_CC	ss3771717679	Jul 13, 2019 (153)
116	ILLUMINA	ss3772323973	Jul 13, 2019 (153)
117	PACBIO	ss3787336982	Jul 13, 2019 (153)
118	PACBIO	ss3792419219	Jul 13, 2019 (153)
119	PACBIO	ss3797302305	Jul 13, 2019 (153)
120	KHV_HUMAN_GENOMES	ss3816302718	Jul 13, 2019 (153)
121	EVA	ss3833328425	Apr 27, 2020 (154)
122	EVA	ss3840236365	Apr 27, 2020 (154)
123	EVA	ss3845724999	Apr 27, 2020 (154)
124	HGDP	ss3847464290	Apr 27, 2020 (154)
125	SGDP_PRJ	ss3879121577	Apr 27, 2020 (154)
126	KRGDB	ss3927864444	Apr 27, 2020 (154)
127	KOGIC	ss3972735892	Apr 27, 2020 (154)
128	EVA	ss3984673297	Apr 26, 2021 (155)
129	EVA	ss3985615156	Apr 26, 2021 (155)
130	EVA	ss4017610911	Apr 26, 2021 (155)
131	TOPMED	ss4932925058	Apr 26, 2021 (155)
132	TOMMO_GENOMICS	ss5208183512	Apr 26, 2021 (155)
133	1000G_HIGH_COVERAGE	ss5292248338	Oct 16, 2022 (156)
134	EVA	ss5315649556	Oct 16, 2022 (156)
135	EVA	ss5408254746	Oct 16, 2022 (156)
136	HUGCELL_USP	ss5486850560	Oct 16, 2022 (156)
137	EVA	ss5510845587	Oct 16, 2022 (156)
138	1000G_HIGH_COVERAGE	ss5590482183	Oct 16, 2022 (156)
139	SANFORD_IMAGENETICS	ss5624312327	Oct 16, 2022 (156)
140	SANFORD_IMAGENETICS	ss5653965241	Oct 16, 2022 (156)
141	TOMMO_GENOMICS	ss5758512527	Oct 16, 2022 (156)
142	YY_MCH	ss5813649107	Oct 16, 2022 (156)
143	EVA	ss5838520140	Oct 16, 2022 (156)
144	EVA	ss5847415930	Oct 16, 2022 (156)
145	EVA	ss5850548686	Oct 16, 2022 (156)
146	EVA	ss5906039556	Oct 16, 2022 (156)
147	EVA	ss5945372540	Oct 16, 2022 (156)
148	EVA	ss5979404185	Oct 16, 2022 (156)
149	1000Genomes	NC_000012.11 - 112007756	Oct 12, 2018 (152)
150	1000Genomes_30x	NC_000012.12 - 111569952	Oct 16, 2022 (156)
151	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 112007756	Oct 12, 2018 (152)
152	Genome-wide autozygosity in Daghestan	NC_000012.10 - 110492139	Apr 27, 2020 (154)
153	Genetic variation in the Estonian population	NC_000012.11 - 112007756	Oct 12, 2018 (152)
154	The Danish reference pan genome	NC_000012.11 - 112007756	Apr 27, 2020 (154)
155	gnomAD - Genomes	NC_000012.12 - 111569952	Apr 26, 2021 (155)
156	Genome of the Netherlands Release 5	NC_000012.11 - 112007756	Apr 27, 2020 (154)
157	HGDP-CEPH-db Supplement 1	NC_000012.10 - 110492139	Apr 27, 2020 (154)
158	HapMap	NC_000012.12 - 111569952	Apr 27, 2020 (154)
159	KOREAN population from KRGDB	NC_000012.11 - 112007756	Apr 27, 2020 (154)
160	Korean Genome Project	NC_000012.12 - 111569952	Apr 27, 2020 (154)
161	Northern Sweden	NC_000012.11 - 112007756	Jul 13, 2019 (153)
162	The PAGE Study	NC_000012.12 - 111569952	Jul 13, 2019 (153)
163	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 112007756	Apr 26, 2021 (155)
164	CNV burdens in cranial meningiomas	NC_000012.11 - 112007756	Apr 26, 2021 (155)
165	Qatari	NC_000012.11 - 112007756	Apr 27, 2020 (154)
166	SGDP_PRJ	NC_000012.11 - 112007756	Apr 27, 2020 (154)
167	Siberian	NC_000012.11 - 112007756	Apr 27, 2020 (154)
168	8.3KJPN	NC_000012.11 - 112007756	Apr 26, 2021 (155)
169	14KJPN	NC_000012.12 - 111569952	Oct 16, 2022 (156)
170	TopMed	NC_000012.12 - 111569952	Apr 26, 2021 (155)
171	UK 10K study - Twins	NC_000012.11 - 112007756	Oct 12, 2018 (152)
172	A Vietnamese Genetic Variation Database	NC_000012.11 - 112007756	Jul 13, 2019 (153)
173	ALFA	NC_000012.12 - 111569952	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)
rs60407737	May 26, 2008 (130)
rs386603326	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
35041838, ss3927864444	NC_000012.11:112007755:C:G	NC_000012.12:111569951:C:G	(self)
ss83905028, ss85815351, ss3639006561, ss3639506182	NC_000012.9:110470475:C:T	NC_000012.12:111569951:C:T	(self)
116447, 142182, ss89389346, ss112444205, ss114108802, ss119715668, ss168718686, ss170883629, ss175268139, ss198695704, ss208165544, ss255347310, ss281548986, ss286627480, ss291341204, ss410941605, ss825554967, ss1397645697, ss1642069603, ss1713358401, ss2094876806, ss3642978780, ss3847464290	NC_000012.10:110492138:C:T	NC_000012.12:111569951:C:T	(self)
59467316, 33027527, 23394065, 3129160, 14732364, 35041838, 12670846, 841083, 222793, 15359191, 31138557, 8281380, 66152819, 33027527, 7328401, ss225963561, ss236090116, ss242616883, ss491473787, ss537360668, ss563407573, ss658990457, ss780685886, ss783359390, ss833053469, ss833644297, ss989963907, ss1078773745, ss1346655911, ss1427055400, ss1576528086, ss1629455778, ss1672449811, ss1752046618, ss1807421928, ss1917878905, ss1933317261, ss1946349972, ss1959466523, ss1967682872, ss2027415922, ss2095039468, ss2095039469, ss2155765026, ss2628189173, ss2633009175, ss2633009176, ss2700122696, ss2710770880, ss2915228403, ss2984991183, ss2985627211, ss3010355272, ss3021466749, ss3350251528, ss3626969976, ss3626969977, ss3634523955, ss3637987194, ss3640231288, ss3644602979, ss3651848940, ss3651848941, ss3651848942, ss3653761077, ss3677655817, ss3739385981, ss3744401112, ss3744824770, ss3750970541, ss3772323973, ss3787336982, ss3792419219, ss3797302305, ss3833328425, ss3840236365, ss3879121577, ss3927864444, ss3984673297, ss3985615156, ss4017610911, ss5208183512, ss5315649556, ss5408254746, ss5510845587, ss5624312327, ss5653965241, ss5838520140, ss5847415930, ss5945372540, ss5979404185	NC_000012.11:112007755:C:T	NC_000012.12:111569951:C:T	(self)
78008118, 419463159, 905491, 29113893, 939148, 92349631, 148470715, 11493392525, ss2193225411, ss3027517951, ss3649923323, ss3694474563, ss3725357843, ss3771717679, ss3816302718, ss3845724999, ss3972735892, ss4932925058, ss5292248338, ss5486850560, ss5590482183, ss5758512527, ss5813649107, ss5850548686, ss5906039556	NC_000012.12:111569951:C:T	NC_000012.12:111569951:C:T	(self)
ss15655495, ss16579296, ss19942562, ss20961396	NT_009775.14:2526497:C:T	NC_000012.12:111569951:C:T	(self)
ss826183, ss1211981, ss1953473, ss6574927, ss38970233, ss66655334, ss67467468, ss67821935, ss70870870, ss71459717, ss75534472, ss76431387, ss79224449, ss83508612, ss97341413, ss105122313, ss122562110, ss132063172, ss133363687, ss154366100, ss157912984, ss159542266, ss172142905, ss174026544, ss469415397, ss469996517	NT_009775.17:2584285:C:T	NC_000012.12:111569951:C:T	(self)

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

59 citations for rs653178

PMID	Title	Author	Year	Journal
16205789	Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.	Yu F et al.	2005	PLoS genetics
18311140	Newly identified genetic risk variants for celiac disease related to the immune response.	Hunt KA et al.	2008	Nature genetics
18713140	Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.	Dubois PC et al.	2008	Clinical and experimental immunology
18853133	Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.	Rafiq S et al.	2008	Diabetologia
19430479	Genome-wide association study of blood pressure and hypertension.	Levy D et al.	2009	Nature genetics
19430483	Genome-wide association study identifies eight loci associated with blood pressure.	Newton-Cheh C et al.	2009	Nature genetics
19648293	Replication of celiac disease UK genome-wide association study results in a US population.	Garner CP et al.	2009	Human molecular genetics
19820697	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Soranzo N et al.	2009	Nature genetics
20190752	Multiple common variants for celiac disease influencing immune gene expression.	Dubois PC et al.	2010	Nature genetics
20369022	Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.	Nica AC et al.	2010	PLoS genetics
20383146	New loci associated with kidney function and chronic kidney disease.	Köttgen A et al.	2010	Nature genetics
20425154	Genome-wide association studies: contribution of genomics to understanding blood pressure and essential hypertension.	Ehret GB et al.	2010	Current hypertension reports
20542020	Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese.	Niu W et al.	2010	Clinica chimica acta; international journal of clinical chemistry
20647273	Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.	Hinks A et al.	2010	Annals of the rheumatic diseases
20838585	Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.	Smith EN et al.	2010	PLoS genetics
20854658	Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.	Eyre S et al.	2010	Arthritis research & therapy
20948529	Recent findings in the genetics of blood pressure and hypertension traits.	Franceschini N et al.	2011	American journal of hypertension
21045733	Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.	Ho JE et al.	2011	Journal of hypertension
21129164	The genetics of blood pressure and hypertension: the role of rare variation.	Doris PA et al.	2011	Cardiovascular therapeutics
21383967	Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.	Zhernakova A et al.	2011	PLoS genetics
21507254	Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease.	Ding K et al.	2011	BMC medical genetics
21826374	Selective IgA deficiency in autoimmune diseases.	Wang N et al.	2011	Molecular medicine (Cambridge, Mass.)
21829388	Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.	Fehrmann RS et al.	2011	PLoS genetics
21860704	Implications of discoveries from genome-wide association studies in current cardiovascular practice.	Jeemon P et al.	2011	World journal of cardiology
21931561	Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.	Liu CT et al.	2011	PLoS genetics
21963141	Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China.	Lin Y et al.	2011	Atherosclerosis
21980298	Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.	Böger CA et al.	2011	PLoS genetics
22144904	Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.	Rotival M et al.	2011	PLoS genetics
22190364	Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.	Patsopoulos NA et al.	2011	Annals of neurology
22216278	Large scale association analysis identifies three susceptibility loci for coronary artery disease.	Saade S et al.	2011	PloS one
23474010	Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.	Olden M et al.	2013	American journal of kidney diseases
24274136	Biobanking across the phenome - at the center of chronic disease research.	Imboden M et al.	2013	BMC public health
24513273	A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.	Yang B et al.	2014	BMC medical genomics
24936253	12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?	Auburger G et al.	2014	World journal of diabetes
25009551	The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.	Kullo IJ et al.	2014	Frontiers in genetics
25238615	A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND.	Shiffman D et al.	2014	PloS one
25302496	Using multivariable Mendelian randomization to disentangle the causal effects of lipid fractions.	Burgess S et al.	2014	PloS one
25345847	The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease.	Kuś A et al.	2015	Clinical endocrinology
25646370	Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.	Matsuo H et al.	2016	Annals of the rheumatic diseases
25893417	Genetic variants associated with celiac disease and the risk for coronary artery disease.	Jansen H et al.	2015	Molecular genetics and genomics
25979711	Do Genetic Susceptibility Variants Associate with Disease Severity in Early Active Rheumatoid Arthritis?	Scott IC et al.	2015	The Journal of rheumatology
26051272	Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.	Fischer A et al.	2015	American journal of respiratory and critical care medicine
26752265	Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.	Bailey JN et al.	2016	Nature genetics
26843965	Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis.	Saad MN et al.	2016	Journal of advanced research
26902266	Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.	Giri AK et al.	2016	Scientific reports
27005424	Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.	Orlando G et al.	2016	Human molecular genetics
27015091	Identification of Non-HLA Genes Associated with Celiac Disease and Country-Specific Differences in a Large, International Pediatric Cohort.	Sharma A et al.	2016	PloS one
27156530	Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.	Ye BD et al.	2016	Expert review of clinical immunology
27338949	Mendelian Randomisation study of the influence of eGFR on coronary heart disease.	Charoen P et al.	2016	Scientific reports
27623284	Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.	Verma SS et al.	2016	PLoS genetics
28679452	Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout.	Rasheed H et al.	2017	Arthritis research & therapy
28793914	Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank.	Cadzow M et al.	2017	Arthritis research & therapy
28843344	Novel common variants associated with body mass index and coronary artery disease detected using a pleiotropic cFDR method.	Lv WQ et al.	2017	Journal of molecular and cellular cardiology
29547645	Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.	Jiao X et al.	2018	PloS one
30626429	Interactions between serum urate-associated genetic variants and sex on gout risk: analysis of the UK Biobank.	Narang RK et al.	2019	Arthritis research & therapy
30888520	Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.	Johnson MB et al.	2019	Current diabetes reports
32292418	Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study.	Niu PP et al.	2020	Frontiers in genetics
32929287	Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.	Orrù V et al.	2020	Nature genetics
34025845	Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study.	Mazidi M et al.	2021	Archives of medical science

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs653178