Name: rs7571971
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.

rs7571971

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:88595833 (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: T=0.219593 (58124/264690, TOPMED)
T=0.274024 (42089/153596, ALFA)
T=0.221383 (30998/140020, GnomAD) (+ 24 more)
T=0.303410 (41214/135836, GnomAD_exome)
T=0.21626 (17014/78674, PAGE_STUDY)
T=0.40682 (11496/28258, 14KJPN)
T=0.41098 (6888/16760, 8.3KJPN)
T=0.31708 (4890/15422, ExAC)
T=0.2714 (1738/6404, 1000G_30x)
T=0.2792 (1398/5008, 1000G)
T=0.2667 (1195/4480, Estonian)
T=0.2807 (1082/3854, ALSPAC)
T=0.2853 (1058/3708, TWINSUK)
T=0.4430 (1298/2930, KOREAN)
T=0.3082 (638/2070, HGDP_Stanford)
T=0.4269 (782/1832, Korea1K)
T=0.328 (327/998, GoNL)
T=0.322 (321/996, HapMap)
T=0.422 (331/784, PRJEB37584)
T=0.260 (156/600, NorthernSweden)
T=0.285 (152/534, MGP)
T=0.192 (92/478, SGDP_PRJ)
T=0.282 (61/216, Qatari)
C=0.491 (104/212, Vietnamese)
T=0.23 (12/52, Ancient Sardinia)
T=0.13 (7/52, Siberian)
T=0.38 (15/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: EIF2AK3 : Intron Variant
Publications: 5 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	153740	T=0.273956	C=0.726044
European	Sub	127828	T=0.270911	C=0.729089
African	Sub	4512	T=0.0674	C=0.9326
African Others	Sub	150	T=0.013	C=0.987
African American	Sub	4362	T=0.0692	C=0.9308
Asian	Sub	3236	T=0.4583	C=0.5417
East Asian	Sub	1988	T=0.4638	C=0.5362
Other Asian	Sub	1248	T=0.4495	C=0.5505
Latin American 1	Sub	240	T=0.233	C=0.767
Latin American 2	Sub	1232	T=0.3019	C=0.6981
South Asian	Sub	4866	T=0.3681	C=0.6319
Other	Sub	11826	T=0.29444	C=0.70556

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	T=0.219593	C=0.780407
Allele Frequency Aggregator	Total	Global	153596	T=0.274024	C=0.725976
Allele Frequency Aggregator	European	Sub	127706	T=0.270950	C=0.729050
Allele Frequency Aggregator	Other	Sub	11818	T=0.29455	C=0.70545
Allele Frequency Aggregator	South Asian	Sub	4866	T=0.3681	C=0.6319
Allele Frequency Aggregator	African	Sub	4498	T=0.0676	C=0.9324
Allele Frequency Aggregator	Asian	Sub	3236	T=0.4583	C=0.5417
Allele Frequency Aggregator	Latin American 2	Sub	1232	T=0.3019	C=0.6981
Allele Frequency Aggregator	Latin American 1	Sub	240	T=0.233	C=0.767
gnomAD - Genomes	Global	Study-wide	140020	T=0.221383	C=0.778617
gnomAD - Genomes	European	Sub	75848	T=0.28313	C=0.71687
gnomAD - Genomes	African	Sub	41966	T=0.05697	C=0.94303
gnomAD - Genomes	American	Sub	13626	T=0.31616	C=0.68384
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2176	C=0.7824
gnomAD - Genomes	East Asian	Sub	3112	T=0.4859	C=0.5141
gnomAD - Genomes	Other	Sub	2146	T=0.2745	C=0.7255
gnomAD - Exomes	Global	Study-wide	135836	T=0.303410	C=0.696590
gnomAD - Exomes	European	Sub	61160	T=0.28035	C=0.71965
gnomAD - Exomes	Asian	Sub	32118	T=0.41270	C=0.58730
gnomAD - Exomes	American	Sub	23718	T=0.31335	C=0.68665
gnomAD - Exomes	Ashkenazi Jewish	Sub	8144	T=0.2194	C=0.7806
gnomAD - Exomes	African	Sub	6574	T=0.0485	C=0.9515
gnomAD - Exomes	Other	Sub	4122	T=0.3093	C=0.6907
The PAGE Study	Global	Study-wide	78674	T=0.21626	C=0.78374
The PAGE Study	AfricanAmerican	Sub	32508	T=0.06269	C=0.93731
The PAGE Study	Mexican	Sub	10808	T=0.31625	C=0.68375
The PAGE Study	Asian	Sub	8314	T=0.4293	C=0.5707
The PAGE Study	PuertoRican	Sub	7914	T=0.2378	C=0.7622
The PAGE Study	NativeHawaiian	Sub	4528	T=0.5086	C=0.4914
The PAGE Study	Cuban	Sub	4230	T=0.2489	C=0.7511
The PAGE Study	Dominican	Sub	3828	T=0.1899	C=0.8101
The PAGE Study	CentralAmerican	Sub	2450	T=0.3004	C=0.6996
The PAGE Study	SouthAmerican	Sub	1980	T=0.3212	C=0.6788
The PAGE Study	NativeAmerican	Sub	1260	T=0.2698	C=0.7302
The PAGE Study	SouthAsian	Sub	854	T=0.365	C=0.635
14KJPN	JAPANESE	Study-wide	28258	T=0.40682	C=0.59318
8.3KJPN	JAPANESE	Study-wide	16760	T=0.41098	C=0.58902
ExAC	Global	Study-wide	15422	T=0.31708	C=0.68292
ExAC	Asian	Sub	7868	T=0.3786	C=0.6214
ExAC	Europe	Sub	6336	T=0.2711	C=0.7289
ExAC	African	Sub	778	T=0.062	C=0.938
ExAC	American	Sub	250	T=0.324	C=0.676
ExAC	Other	Sub	190	T=0.337	C=0.663
1000Genomes_30x	Global	Study-wide	6404	T=0.2714	C=0.7286
1000Genomes_30x	African	Sub	1786	T=0.0134	C=0.9866
1000Genomes_30x	Europe	Sub	1266	T=0.2978	C=0.7022
1000Genomes_30x	South Asian	Sub	1202	T=0.3636	C=0.6364
1000Genomes_30x	East Asian	Sub	1170	T=0.4906	C=0.5094
1000Genomes_30x	American	Sub	980	T=0.333	C=0.667
1000Genomes	Global	Study-wide	5008	T=0.2792	C=0.7208
1000Genomes	African	Sub	1322	T=0.0166	C=0.9834
1000Genomes	East Asian	Sub	1008	T=0.4851	C=0.5149
1000Genomes	Europe	Sub	1006	T=0.2972	C=0.7028
1000Genomes	South Asian	Sub	978	T=0.367	C=0.633
1000Genomes	American	Sub	694	T=0.330	C=0.670
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2667	C=0.7333
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2807	C=0.7193
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2853	C=0.7147
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4430	C=0.5570
HGDP-CEPH-db Supplement 1	Global	Study-wide	2070	T=0.3082	C=0.6918
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	464	T=0.468	C=0.532
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.307	C=0.693
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.261	C=0.739
HGDP-CEPH-db Supplement 1	Europe	Sub	318	T=0.296	C=0.704
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.017	C=0.983
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.394	C=0.606
HGDP-CEPH-db Supplement 1	Oceania	Sub	68	T=0.29	C=0.71
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4269	C=0.5731
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.328	C=0.672
HapMap	Global	Study-wide	996	T=0.322	C=0.678
HapMap	American	Sub	456	T=0.373	C=0.627
HapMap	Asian	Sub	248	T=0.440	C=0.560
HapMap	Europe	Sub	172	T=0.244	C=0.756
HapMap	African	Sub	120	T=0.000	C=1.000
CNV burdens in cranial meningiomas	Global	Study-wide	784	T=0.422	C=0.578
CNV burdens in cranial meningiomas	CRM	Sub	784	T=0.422	C=0.578
Northern Sweden	ACPOP	Study-wide	600	T=0.260	C=0.740
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.285	C=0.715
SGDP_PRJ	Global	Study-wide	478	T=0.192	C=0.808
Qatari	Global	Study-wide	216	T=0.282	C=0.718
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.509	C=0.491
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	52	T=0.23	C=0.77
Siberian	Global	Study-wide	52	T=0.13	C=0.87
The Danish reference pan genome	Danish	Study-wide	40	T=0.38	C=0.62

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 2	NC_000002.12:g.88595833T>C
GRCh37.p13 chr 2	NC_000002.11:g.88895351T>C
EIF2AK3 RefSeqGene (LRG_1024)	NG_016424.1:g.36744A>G

Gene: EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EIF2AK3 transcript variant 2	NM_001313915.2:c.-15-170A… NM_001313915.2:c.-15-170A>G	N/A	Intron Variant
EIF2AK3 transcript variant 1	NM_004836.7:c.439-170A>G	N/A	Intron Variant
EIF2AK3 transcript variant X1	XM_047446428.1:c.148-170A… XM_047446428.1:c.148-170A>G	N/A	Intron Variant
EIF2AK3 transcript variant X3	XM_047446430.1:c.439-170A… XM_047446430.1:c.439-170A>G	N/A	Intron Variant
EIF2AK3 transcript variant X2	XM_047446429.1:c.	N/A	Genic Upstream Transcript 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.

Allele: C (allele ID: 1164202 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001529554.2	not specified	Benign
RCV001696238.1	not provided	Benign

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 2	NC_000002.12:g.88595833=	NC_000002.12:g.88595833T>C
GRCh37.p13 chr 2	NC_000002.11:g.88895351=	NC_000002.11:g.88895351T>C
EIF2AK3 RefSeqGene (LRG_1024)	NG_016424.1:g.36744=	NG_016424.1:g.36744A>G
EIF2AK3 transcript variant 2	NM_001313915.2:c.-15-170=	NM_001313915.2:c.-15-170A>G
EIF2AK3 transcript	NM_004836.5:c.439-170=	NM_004836.5:c.439-170A>G
EIF2AK3 transcript variant 1	NM_004836.7:c.439-170=	NM_004836.7:c.439-170A>G
EIF2AK3 transcript variant X1	XM_047446428.1:c.148-170=	XM_047446428.1:c.148-170A>G
EIF2AK3 transcript variant X3	XM_047446430.1:c.439-170=	XM_047446430.1:c.439-170A>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#.

145 SubSNP, 27 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11460302	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss19439001	Feb 27, 2004 (120)
3	SSAHASNP	ss21557904	Apr 05, 2004 (121)
4	ABI	ss44306594	Mar 13, 2006 (126)
5	ILLUMINA	ss66818420	Dec 01, 2006 (127)
6	ILLUMINA	ss67800370	Dec 01, 2006 (127)
7	ILLUMINA	ss67972532	Dec 01, 2006 (127)
8	ILLUMINA	ss70934620	May 26, 2008 (130)
9	ILLUMINA	ss71537039	May 17, 2007 (127)
10	ILLUMINA	ss75839161	Dec 06, 2007 (129)
11	ILLUMINA	ss79261168	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss84681498	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss91248640	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss97057881	Feb 06, 2009 (130)
15	BGI	ss103538044	Dec 01, 2009 (131)
16	1000GENOMES	ss109708218	Jan 24, 2009 (130)
17	1000GENOMES	ss110610775	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss117795855	Feb 14, 2009 (130)
19	ILLUMINA	ss122781562	Dec 01, 2009 (131)
20	ENSEMBL	ss135787770	Dec 01, 2009 (131)
21	ILLUMINA	ss154431156	Dec 01, 2009 (131)
22	GMI	ss157335193	Dec 01, 2009 (131)
23	ILLUMINA	ss159606251	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss163743269	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss164810684	Jul 04, 2010 (132)
26	ILLUMINA	ss172308737	Jul 04, 2010 (132)
27	ILLUMINA	ss174425531	Jul 04, 2010 (132)
28	BUSHMAN	ss200752167	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss205589851	Jul 04, 2010 (132)
30	1000GENOMES	ss219382836	Jul 14, 2010 (132)
31	1000GENOMES	ss231267416	Jul 14, 2010 (132)
32	1000GENOMES	ss238799443	Jul 15, 2010 (132)
33	GMI	ss276564616	May 04, 2012 (137)
34	GMI	ss284386858	Apr 25, 2013 (138)
35	PJP	ss292312185	May 09, 2011 (134)
36	EXOME_CHIP	ss491321606	May 04, 2012 (137)
37	CLINSEQ_SNP	ss491786904	May 04, 2012 (137)
38	ILLUMINA	ss537484423	Sep 08, 2015 (146)
39	TISHKOFF	ss555726655	Apr 25, 2013 (138)
40	SSMP	ss649323592	Apr 25, 2013 (138)
41	ILLUMINA	ss780686612	Sep 08, 2015 (146)
42	ILLUMINA	ss783360138	Sep 08, 2015 (146)
43	ILLUMINA	ss825591686	Apr 01, 2015 (144)
44	ILLUMINA	ss833117234	Aug 21, 2014 (142)
45	ILLUMINA	ss833708062	Aug 21, 2014 (142)
46	EVA-GONL	ss977099079	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1069316284	Aug 21, 2014 (142)
48	1000GENOMES	ss1298271055	Aug 21, 2014 (142)
49	DDI	ss1428654470	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1578984548	Apr 01, 2015 (144)
51	EVA_DECODE	ss1586520801	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1604055085	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1647049118	Apr 01, 2015 (144)
54	EVA_EXAC	ss1686399793	Apr 01, 2015 (144)
55	EVA_MGP	ss1710970075	Apr 01, 2015 (144)
56	EVA_SVP	ss1712474108	Apr 01, 2015 (144)
57	ILLUMINA	ss1752373695	Sep 08, 2015 (146)
58	HAMMER_LAB	ss1797109967	Sep 08, 2015 (146)
59	ILLUMINA	ss1917751558	Feb 12, 2016 (147)
60	WEILL_CORNELL_DGM	ss1920336429	Feb 12, 2016 (147)
61	ILLUMINA	ss1946046492	Feb 12, 2016 (147)
62	ILLUMINA	ss1958438251	Feb 12, 2016 (147)
63	GENOMED	ss1968829836	Jul 19, 2016 (147)
64	JJLAB	ss2020702017	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2148746351	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2232409834	Dec 20, 2016 (150)
67	SYSTEMSBIOZJU	ss2624858319	Nov 08, 2017 (151)
68	ILLUMINA	ss2633645799	Nov 08, 2017 (151)
69	ILLUMINA	ss2635093096	Nov 08, 2017 (151)
70	GRF	ss2703330843	Nov 08, 2017 (151)
71	GNOMAD	ss2732810167	Nov 08, 2017 (151)
72	GNOMAD	ss2746723598	Nov 08, 2017 (151)
73	GNOMAD	ss2776462781	Nov 08, 2017 (151)
74	AFFY	ss2985179085	Nov 08, 2017 (151)
75	AFFY	ss2985801607	Nov 08, 2017 (151)
76	SWEGEN	ss2989924457	Nov 08, 2017 (151)
77	ILLUMINA	ss3021993311	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3024116353	Nov 08, 2017 (151)
79	CSHL	ss3344345635	Nov 08, 2017 (151)
80	ILLUMINA	ss3628117470	Oct 11, 2018 (152)
81	ILLUMINA	ss3628117471	Oct 11, 2018 (152)
82	ILLUMINA	ss3634777674	Oct 11, 2018 (152)
83	ILLUMINA	ss3638274186	Oct 11, 2018 (152)
84	ILLUMINA	ss3639142149	Oct 11, 2018 (152)
85	ILLUMINA	ss3639583307	Oct 11, 2018 (152)
86	ILLUMINA	ss3640484976	Oct 11, 2018 (152)
87	ILLUMINA	ss3643243022	Oct 11, 2018 (152)
88	ILLUMINA	ss3644749242	Oct 11, 2018 (152)
89	OMUKHERJEE_ADBS	ss3646263937	Oct 11, 2018 (152)
90	URBANLAB	ss3647085095	Oct 11, 2018 (152)
91	ILLUMINA	ss3652428929	Oct 11, 2018 (152)
92	ILLUMINA	ss3653945591	Oct 11, 2018 (152)
93	EGCUT_WGS	ss3657895833	Jul 13, 2019 (153)
94	EVA_DECODE	ss3704389375	Jul 13, 2019 (153)
95	ILLUMINA	ss3725805301	Jul 13, 2019 (153)
96	ACPOP	ss3728650644	Jul 13, 2019 (153)
97	ILLUMINA	ss3744477691	Jul 13, 2019 (153)
98	ILLUMINA	ss3745077572	Jul 13, 2019 (153)
99	EVA	ss3757069549	Jul 13, 2019 (153)
100	PAGE_CC	ss3770935265	Jul 13, 2019 (153)
101	ILLUMINA	ss3772574318	Jul 13, 2019 (153)
102	PACBIO	ss3783924832	Jul 13, 2019 (153)
103	PACBIO	ss3789501023	Jul 13, 2019 (153)
104	PACBIO	ss3794374061	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3801441227	Jul 13, 2019 (153)
106	EVA	ss3825604814	Apr 25, 2020 (154)
107	EVA	ss3827104386	Apr 25, 2020 (154)
108	EVA	ss3836962701	Apr 25, 2020 (154)
109	EVA	ss3842379119	Apr 25, 2020 (154)
110	HGDP	ss3847626120	Apr 25, 2020 (154)
111	SGDP_PRJ	ss3852811572	Apr 25, 2020 (154)
112	KRGDB	ss3898263338	Apr 25, 2020 (154)
113	KOGIC	ss3948263161	Apr 25, 2020 (154)
114	FSA-LAB	ss3984181898	Apr 26, 2021 (155)
115	FSA-LAB	ss3984181899	Apr 26, 2021 (155)
116	EVA	ss3984486269	Apr 26, 2021 (155)
117	EVA	ss3984908627	Apr 26, 2021 (155)
118	EVA	ss3986188484	Apr 26, 2021 (155)
119	EVA	ss4017008804	Apr 26, 2021 (155)
120	TOPMED	ss4514779786	Apr 26, 2021 (155)
121	TOMMO_GENOMICS	ss5152549984	Apr 26, 2021 (155)
122	EVA	ss5237170204	Apr 26, 2021 (155)
123	1000G_HIGH_COVERAGE	ss5248967092	Oct 12, 2022 (156)
124	EVA	ss5314753631	Oct 12, 2022 (156)
125	EVA	ss5330578335	Oct 12, 2022 (156)
126	HUGCELL_USP	ss5449060273	Oct 12, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5524667789	Oct 12, 2022 (156)
128	EVA	ss5624101005	Oct 12, 2022 (156)
129	SANFORD_IMAGENETICS	ss5624451648	Oct 12, 2022 (156)
130	SANFORD_IMAGENETICS	ss5629258067	Oct 12, 2022 (156)
131	TOMMO_GENOMICS	ss5681518314	Oct 12, 2022 (156)
132	EVA	ss5800048939	Oct 12, 2022 (156)
133	EVA	ss5800096179	Oct 12, 2022 (156)
134	YY_MCH	ss5802426256	Oct 12, 2022 (156)
135	EVA	ss5820439332	Oct 12, 2022 (156)
136	EVA	ss5847192214	Oct 12, 2022 (156)
137	EVA	ss5847875747	Oct 12, 2022 (156)
138	EVA	ss5848518583	Oct 12, 2022 (156)
139	EVA	ss5852621951	Oct 12, 2022 (156)
140	EVA	ss5931381189	Oct 12, 2022 (156)
141	EVA	ss5936516380	Oct 12, 2022 (156)
142	EVA	ss5955498054	Oct 12, 2022 (156)
143	EVA	ss5979574714	Oct 12, 2022 (156)
144	EVA	ss5980068407	Oct 12, 2022 (156)
145	EVA	ss5981206014	Oct 12, 2022 (156)
146	1000Genomes	NC_000002.11 - 88895351	Oct 11, 2018 (152)
147	1000Genomes_30x	NC_000002.12 - 88595833	Oct 12, 2022 (156)
148	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 88895351	Oct 11, 2018 (152)
149	Genetic variation in the Estonian population	NC_000002.11 - 88895351	Oct 11, 2018 (152)
150	ExAC	NC_000002.11 - 88895351	Oct 11, 2018 (152)
151	The Danish reference pan genome	NC_000002.11 - 88895351	Apr 25, 2020 (154)
152	gnomAD - Genomes	NC_000002.12 - 88595833	Apr 26, 2021 (155)
153	gnomAD - Exomes	NC_000002.11 - 88895351	Jul 13, 2019 (153)
154	Genome of the Netherlands Release 5	NC_000002.11 - 88895351	Apr 25, 2020 (154)
155	HGDP-CEPH-db Supplement 1	NC_000002.10 - 88676466	Apr 25, 2020 (154)
156	HapMap	NC_000002.12 - 88595833	Apr 25, 2020 (154)
157	KOREAN population from KRGDB	NC_000002.11 - 88895351	Apr 25, 2020 (154)
158	Korean Genome Project	NC_000002.12 - 88595833	Apr 25, 2020 (154)
159	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 88895351	Apr 25, 2020 (154)
160	Northern Sweden	NC_000002.11 - 88895351	Jul 13, 2019 (153)
161	The PAGE Study	NC_000002.12 - 88595833	Jul 13, 2019 (153)
162	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 88895351	Apr 26, 2021 (155)
163	CNV burdens in cranial meningiomas	NC_000002.11 - 88895351	Apr 26, 2021 (155)
164	Qatari	NC_000002.11 - 88895351	Apr 25, 2020 (154)
165	SGDP_PRJ	NC_000002.11 - 88895351	Apr 25, 2020 (154)
166	Siberian	NC_000002.11 - 88895351	Apr 25, 2020 (154)
167	8.3KJPN	NC_000002.11 - 88895351	Apr 26, 2021 (155)
168	14KJPN	NC_000002.12 - 88595833	Oct 12, 2022 (156)
169	TopMed	NC_000002.12 - 88595833	Apr 26, 2021 (155)
170	UK 10K study - Twins	NC_000002.11 - 88895351	Oct 11, 2018 (152)
171	A Vietnamese Genetic Variation Database	NC_000002.11 - 88895351	Jul 13, 2019 (153)
172	ALFA	NC_000002.12 - 88595833	Apr 26, 2021 (155)
173	ClinVar	RCV001529554.2	Oct 12, 2022 (156)
174	ClinVar	RCV001696238.1	Oct 12, 2022 (156)

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)
rs60996253	May 26, 2008 (130)
rs386611548	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639142149, ss3639583307	NC_000002.9:88734612:T:C	NC_000002.12:88595832:T:C	(self)
304012, ss91248640, ss109708218, ss110610775, ss117795855, ss163743269, ss164810684, ss200752167, ss205589851, ss276564616, ss284386858, ss292312185, ss491786904, ss825591686, ss1586520801, ss1712474108, ss2635093096, ss3643243022, ss3847626120	NC_000002.10:88676465:T:C	NC_000002.12:88595832:T:C	(self)
9252218, 5136972, 3634081, 6277550, 5152796, 1864239, 2255575, 5440732, 86827, 1935509, 134554, 35601, 2378359, 4828552, 1262705, 10519291, 5136972, 1116441, ss219382836, ss231267416, ss238799443, ss491321606, ss537484423, ss555726655, ss649323592, ss780686612, ss783360138, ss833117234, ss833708062, ss977099079, ss1069316284, ss1298271055, ss1428654470, ss1578984548, ss1604055085, ss1647049118, ss1686399793, ss1710970075, ss1752373695, ss1797109967, ss1917751558, ss1920336429, ss1946046492, ss1958438251, ss1968829836, ss2020702017, ss2148746351, ss2624858319, ss2633645799, ss2703330843, ss2732810167, ss2746723598, ss2776462781, ss2985179085, ss2985801607, ss2989924457, ss3021993311, ss3344345635, ss3628117470, ss3628117471, ss3634777674, ss3638274186, ss3640484976, ss3644749242, ss3646263937, ss3652428929, ss3653945591, ss3657895833, ss3728650644, ss3744477691, ss3745077572, ss3757069549, ss3772574318, ss3783924832, ss3789501023, ss3794374061, ss3825604814, ss3827104386, ss3836962701, ss3852811572, ss3898263338, ss3984181898, ss3984181899, ss3984486269, ss3984908627, ss3986188484, ss4017008804, ss5152549984, ss5314753631, ss5330578335, ss5624101005, ss5624451648, ss5629258067, ss5800048939, ss5800096179, ss5820439332, ss5847192214, ss5847875747, ss5848518583, ss5936516380, ss5955498054, ss5979574714, ss5980068407, ss5981206014	NC_000002.11:88895350:T:C	NC_000002.12:88595832:T:C	(self)
RCV001529554.2, RCV001696238.1, 12193724, 65715876, 1848072, 4641162, 156734, 15355418, 318602665, 8347354368, ss2232409834, ss3024116353, ss3647085095, ss3704389375, ss3725805301, ss3770935265, ss3801441227, ss3842379119, ss3948263161, ss4514779786, ss5237170204, ss5248967092, ss5449060273, ss5524667789, ss5681518314, ss5802426256, ss5852621951, ss5931381189	NC_000002.12:88595832:T:C	NC_000002.12:88595832:T:C	(self)
ss11460302	NT_022184.12:67638888:T:C	NC_000002.12:88595832:T:C	(self)
ss19439001, ss21557904	NT_022184.13:67638892:T:C	NC_000002.12:88595832:T:C	(self)
ss44306594, ss66818420, ss67800370, ss67972532, ss70934620, ss71537039, ss75839161, ss79261168, ss84681498, ss97057881, ss103538044, ss122781562, ss135787770, ss154431156, ss157335193, ss159606251, ss172308737, ss174425531	NT_022184.15:67717237:T:C	NC_000002.12:88595832:T:C	(self)

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

5 citations for rs7571971

PMID	Title	Author	Year	Journal
21685912	Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.	Höglinger GU et al.	2011	Nature genetics
23116876	An exploratory study on STX6, MOBP, MAPT, and EIF2AK3 and late-onset Alzheimer's disease.	Liu QY et al.	2013	Neurobiology of aging
24373676	Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.	McMillan CT et al.	2014	Neurobiology of aging
27799753	Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.	Bagyinszky E et al.	2016	Clinical interventions in aging
33635380	Latent trait modeling of tau neuropathology in progressive supranuclear palsy.	Kouri N et al.	2021	Acta neuropathologica

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

rs7571971