Name: rs762173
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.

rs762173

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:32460367 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.374558 (126901/338802, ALFA)
G=0.445759 (117988/264690, TOPMED)
G=0.424756 (59448/139958, GnomAD) (+ 20 more)
A=0.48562 (38216/78696, PAGE_STUDY)
A=0.42802 (12095/28258, 14KJPN)
A=0.42864 (7184/16760, 8.3KJPN)
G=0.4856 (3110/6404, 1000G_30x)
G=0.4870 (2439/5008, 1000G)
G=0.3752 (1681/4480, Estonian)
G=0.3640 (1403/3854, ALSPAC)
G=0.3697 (1371/3708, TWINSUK)
A=0.3962 (1161/2930, KOREAN)
A=0.4837 (1008/2084, HGDP_Stanford)
A=0.4921 (931/1892, HapMap)
A=0.4083 (748/1832, Korea1K)
G=0.361 (360/998, GoNL)
G=0.352 (211/600, NorthernSweden)
A=0.311 (122/392, SGDP_PRJ)
G=0.417 (90/216, Qatari)
G=0.394 (85/216, Vietnamese)
G=0.33 (26/78, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.24 (9/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EVA1C : Intron Variant
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	343960	A=0.624959	G=0.375041
European	Sub	297088	A=0.640679	G=0.359321
African	Sub	9610	A=0.4673	G=0.5327
African Others	Sub	372	A=0.473	G=0.527
African American	Sub	9238	A=0.4671	G=0.5329
Asian	Sub	6906	A=0.4828	G=0.5172
East Asian	Sub	4970	A=0.4543	G=0.5457
Other Asian	Sub	1936	A=0.5558	G=0.4442
Latin American 1	Sub	1134	A=0.6032	G=0.3968
Latin American 2	Sub	7220	A=0.4283	G=0.5717
South Asian	Sub	5224	A=0.5794	G=0.4206
Other	Sub	16778	A=0.59572	G=0.40428

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	338802	A=0.625442	G=0.374558
Allele Frequency Aggregator	European	Sub	293890	A=0.640536	G=0.359464
Allele Frequency Aggregator	Other	Sub	15974	A=0.59947	G=0.40053
Allele Frequency Aggregator	African	Sub	8454	A=0.4662	G=0.5338
Allele Frequency Aggregator	Latin American 2	Sub	7220	A=0.4283	G=0.5717
Allele Frequency Aggregator	Asian	Sub	6906	A=0.4828	G=0.5172
Allele Frequency Aggregator	South Asian	Sub	5224	A=0.5794	G=0.4206
Allele Frequency Aggregator	Latin American 1	Sub	1134	A=0.6032	G=0.3968
TopMed	Global	Study-wide	264690	A=0.554241	G=0.445759
gnomAD - Genomes	Global	Study-wide	139958	A=0.575244	G=0.424756
gnomAD - Genomes	European	Sub	75806	A=0.64916	G=0.35084
gnomAD - Genomes	African	Sub	41928	A=0.46914	G=0.53086
gnomAD - Genomes	American	Sub	13642	A=0.50293	G=0.49707
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.6078	G=0.3922
gnomAD - Genomes	East Asian	Sub	3114	A=0.4904	G=0.5096
gnomAD - Genomes	Other	Sub	2148	A=0.5698	G=0.4302
The PAGE Study	Global	Study-wide	78696	A=0.48562	G=0.51438
The PAGE Study	AfricanAmerican	Sub	32514	A=0.46715	G=0.53285
The PAGE Study	Mexican	Sub	10810	A=0.40768	G=0.59232
The PAGE Study	Asian	Sub	8318	A=0.4364	G=0.5636
The PAGE Study	PuertoRican	Sub	7918	A=0.5331	G=0.4669
The PAGE Study	NativeHawaiian	Sub	4532	A=0.6871	G=0.3129
The PAGE Study	Cuban	Sub	4230	A=0.5844	G=0.4156
The PAGE Study	Dominican	Sub	3828	A=0.5324	G=0.4676
The PAGE Study	CentralAmerican	Sub	2448	A=0.4138	G=0.5862
The PAGE Study	SouthAmerican	Sub	1982	A=0.4849	G=0.5151
The PAGE Study	NativeAmerican	Sub	1260	A=0.5278	G=0.4722
The PAGE Study	SouthAsian	Sub	856	A=0.591	G=0.409
14KJPN	JAPANESE	Study-wide	28258	A=0.42802	G=0.57198
8.3KJPN	JAPANESE	Study-wide	16760	A=0.42864	G=0.57136
1000Genomes_30x	Global	Study-wide	6404	A=0.5144	G=0.4856
1000Genomes_30x	African	Sub	1786	A=0.4367	G=0.5633
1000Genomes_30x	Europe	Sub	1266	A=0.6382	G=0.3618
1000Genomes_30x	South Asian	Sub	1202	A=0.5857	G=0.4143
1000Genomes_30x	East Asian	Sub	1170	A=0.4812	G=0.5188
1000Genomes_30x	American	Sub	980	A=0.448	G=0.552
1000Genomes	Global	Study-wide	5008	A=0.5130	G=0.4870
1000Genomes	African	Sub	1322	A=0.4221	G=0.5779
1000Genomes	East Asian	Sub	1008	A=0.4792	G=0.5208
1000Genomes	Europe	Sub	1006	A=0.6412	G=0.3588
1000Genomes	South Asian	Sub	978	A=0.581	G=0.419
1000Genomes	American	Sub	694	A=0.454	G=0.546
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6248	G=0.3752
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6360	G=0.3640
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6303	G=0.3697
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3962	G=0.6038
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.4837	G=0.5163
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.451	G=0.549
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.483	G=0.517
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.614	G=0.386
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.600	G=0.400
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.331	G=0.669
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.190	G=0.810
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.94	G=0.06
HapMap	Global	Study-wide	1892	A=0.4921	G=0.5079
HapMap	American	Sub	770	A=0.539	G=0.461
HapMap	African	Sub	692	A=0.426	G=0.574
HapMap	Asian	Sub	254	A=0.425	G=0.575
HapMap	Europe	Sub	176	A=0.642	G=0.358
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4083	G=0.5917
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.639	G=0.361
Northern Sweden	ACPOP	Study-wide	600	A=0.648	G=0.352
SGDP_PRJ	Global	Study-wide	392	A=0.311	G=0.689
Qatari	Global	Study-wide	216	A=0.583	G=0.417
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.606	G=0.394
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	78	A=0.67	G=0.33
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	G=0.38
Siberian	Global	Study-wide	38	A=0.24	G=0.76

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 21	NC_000021.9:g.32460367A>G
GRCh37.p13 chr 21	NC_000021.8:g.33832675A>G

Gene: EVA1C, eva-1 homolog C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EVA1C transcript variant 2	NM_001286556.2:c.481+2647… NM_001286556.2:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant 4	NM_001320744.2:c.161-7329… NM_001320744.2:c.161-7329A>G	N/A	Intron Variant
EVA1C transcript variant 5	NM_001320745.2:c.196+2647… NM_001320745.2:c.196+2647A>G	N/A	Intron Variant
EVA1C transcript variant 1	NM_058187.5:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant 3	NR_104472.2:n.	N/A	Intron Variant
EVA1C transcript variant 6	NR_135467.2:n.	N/A	Intron Variant
EVA1C transcript variant X5	XM_005261019.5:c.481+2647… XM_005261019.5:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant X2	XM_006724038.4:c.481+2647… XM_006724038.4:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant X6	XM_011529669.4:c.196+2647… XM_011529669.4:c.196+2647A>G	N/A	Intron Variant
EVA1C transcript variant X1	XM_017028418.2:c.478+2647… XM_017028418.2:c.478+2647A>G	N/A	Intron Variant
EVA1C transcript variant X4	XM_017028419.2:c.481+2647… XM_017028419.2:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant X7	XM_017028420.2:c.196+2647… XM_017028420.2:c.196+2647A>G	N/A	Intron Variant
EVA1C transcript variant X8	XM_017028422.2:c.161-7329… XM_017028422.2:c.161-7329A>G	N/A	Intron Variant
EVA1C transcript variant X9	XM_017028423.2:c.161-7329… XM_017028423.2:c.161-7329A>G	N/A	Intron Variant
EVA1C transcript variant X3	XM_047440933.1:c.478+2647… XM_047440933.1:c.478+2647A>G	N/A	Intron Variant
EVA1C transcript variant X10	XM_047440934.1:c.481+2647… XM_047440934.1:c.481+2647A>G	N/A	Intron Variant
EVA1C transcript variant X11	XR_001754885.2: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	A=	G
GRCh38.p14 chr 21	NC_000021.9:g.32460367=	NC_000021.9:g.32460367A>G
GRCh37.p13 chr 21	NC_000021.8:g.33832675=	NC_000021.8:g.33832675A>G
EVA1C transcript variant 2	NM_001286556.2:c.481+2647=	NM_001286556.2:c.481+2647A>G
EVA1C transcript variant 4	NM_001320744.2:c.161-7329=	NM_001320744.2:c.161-7329A>G
EVA1C transcript variant 5	NM_001320745.2:c.196+2647=	NM_001320745.2:c.196+2647A>G
EVA1C transcript	NM_058187.3:c.481+2647=	NM_058187.3:c.481+2647A>G
EVA1C transcript variant 1	NM_058187.5:c.481+2647=	NM_058187.5:c.481+2647A>G
EVA1C transcript variant X1	XM_005261018.1:c.481+2647=	XM_005261018.1:c.481+2647A>G
EVA1C transcript variant X2	XM_005261019.1:c.481+2647=	XM_005261019.1:c.481+2647A>G
EVA1C transcript variant X5	XM_005261019.5:c.481+2647=	XM_005261019.5:c.481+2647A>G
EVA1C transcript variant X3	XM_005261020.1:c.161-7329=	XM_005261020.1:c.161-7329A>G
EVA1C transcript variant X4	XM_005261021.1:c.481+2647=	XM_005261021.1:c.481+2647A>G
EVA1C transcript variant X2	XM_006724038.4:c.481+2647=	XM_006724038.4:c.481+2647A>G
EVA1C transcript variant X6	XM_011529669.4:c.196+2647=	XM_011529669.4:c.196+2647A>G
EVA1C transcript variant X1	XM_017028418.2:c.478+2647=	XM_017028418.2:c.478+2647A>G
EVA1C transcript variant X4	XM_017028419.2:c.481+2647=	XM_017028419.2:c.481+2647A>G
EVA1C transcript variant X7	XM_017028420.2:c.196+2647=	XM_017028420.2:c.196+2647A>G
EVA1C transcript variant X8	XM_017028422.2:c.161-7329=	XM_017028422.2:c.161-7329A>G
EVA1C transcript variant X9	XM_017028423.2:c.161-7329=	XM_017028423.2:c.161-7329A>G
EVA1C transcript variant X3	XM_047440933.1:c.478+2647=	XM_047440933.1:c.478+2647A>G
EVA1C transcript variant X10	XM_047440934.1:c.481+2647=	XM_047440934.1:c.481+2647A>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#.

149 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss135763	Oct 05, 2000 (86)
2	WUGSC_SSAHASNP	ss14439012	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss16910820	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17707757	Feb 27, 2004 (120)
5	SSAHASNP	ss21833789	Apr 05, 2004 (121)
6	ABI	ss44261381	Mar 14, 2006 (126)
7	ILLUMINA	ss65720069	Oct 16, 2006 (127)
8	ILLUMINA	ss67808300	Dec 01, 2006 (127)
9	ILLUMINA	ss67977320	Dec 01, 2006 (127)
10	ILLUMINA	ss68281691	Dec 12, 2006 (127)
11	PERLEGEN	ss69252473	May 18, 2007 (127)
12	ILLUMINA	ss70938592	May 26, 2008 (130)
13	ILLUMINA	ss71541828	May 18, 2007 (127)
14	ILLUMINA	ss75510425	Dec 07, 2007 (129)
15	HGSV	ss82860494	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss83555517	Dec 15, 2007 (130)
17	BGI	ss103817359	Feb 23, 2009 (131)
18	1000GENOMES	ss112437422	Jan 25, 2009 (130)
19	1000GENOMES	ss113832320	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss117509957	Feb 14, 2009 (130)
21	ILLUMINA	ss120241566	Dec 01, 2009 (131)
22	ILLUMINA	ss154435340	Dec 01, 2009 (131)
23	ILLUMINA	ss159610364	Dec 01, 2009 (131)
24	ILLUMINA	ss160896303	Dec 01, 2009 (131)
25	ENSEMBL	ss161358091	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss169357354	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss171976854	Jul 04, 2010 (132)
28	ILLUMINA	ss174456629	Jul 04, 2010 (132)
29	BUSHMAN	ss204004053	Jul 04, 2010 (132)
30	1000GENOMES	ss228541868	Jul 14, 2010 (132)
31	1000GENOMES	ss237966008	Jul 15, 2010 (132)
32	1000GENOMES	ss244108245	Jul 15, 2010 (132)
33	ILLUMINA	ss244260697	Jul 04, 2010 (132)
34	BL	ss255916325	May 09, 2011 (134)
35	GMI	ss283526753	May 04, 2012 (137)
36	PJP	ss292702981	May 09, 2011 (134)
37	ILLUMINA	ss481619977	May 04, 2012 (137)
38	ILLUMINA	ss481650145	May 04, 2012 (137)
39	ILLUMINA	ss482617805	Sep 08, 2015 (146)
40	ILLUMINA	ss485604811	May 04, 2012 (137)
41	EXOME_CHIP	ss491565133	May 04, 2012 (137)
42	ILLUMINA	ss537492108	Sep 08, 2015 (146)
43	TISHKOFF	ss566468794	Apr 25, 2013 (138)
44	SSMP	ss662379400	Apr 25, 2013 (138)
45	ILLUMINA	ss778980278	Sep 08, 2015 (146)
46	ILLUMINA	ss783248019	Sep 08, 2015 (146)
47	ILLUMINA	ss783481025	Sep 08, 2015 (146)
48	ILLUMINA	ss784201681	Sep 08, 2015 (146)
49	ILLUMINA	ss832508695	Sep 08, 2015 (146)
50	ILLUMINA	ss833121336	Jul 13, 2019 (153)
51	ILLUMINA	ss834442417	Sep 08, 2015 (146)
52	EVA-GONL	ss995076815	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1082468687	Aug 21, 2014 (142)
54	1000GENOMES	ss1366135909	Aug 21, 2014 (142)
55	DDI	ss1429172355	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1579646880	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1639477251	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1682471284	Apr 01, 2015 (144)
59	EVA_DECODE	ss1699146431	Apr 01, 2015 (144)
60	EVA_SVP	ss1713720076	Apr 01, 2015 (144)
61	ILLUMINA	ss1752405744	Sep 08, 2015 (146)
62	ILLUMINA	ss1752405745	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1809667185	Sep 08, 2015 (146)
64	ILLUMINA	ss1917950861	Feb 12, 2016 (147)
65	WEILL_CORNELL_DGM	ss1938628744	Feb 12, 2016 (147)
66	ILLUMINA	ss1946562359	Feb 12, 2016 (147)
67	ILLUMINA	ss1946562362	Feb 12, 2016 (147)
68	ILLUMINA	ss1959949144	Feb 12, 2016 (147)
69	ILLUMINA	ss1959949145	Feb 12, 2016 (147)
70	GENOMED	ss1969215673	Jul 19, 2016 (147)
71	JJLAB	ss2030085419	Sep 14, 2016 (149)
72	USC_VALOUEV	ss2158689118	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2245470103	Dec 20, 2016 (150)
74	SYSTEMSBIOZJU	ss2629541411	Nov 08, 2017 (151)
75	ILLUMINA	ss2633842931	Nov 08, 2017 (151)
76	ILLUMINA	ss2635109235	Nov 08, 2017 (151)
77	GRF	ss2704418644	Nov 08, 2017 (151)
78	ILLUMINA	ss2710949351	Nov 08, 2017 (151)
79	GNOMAD	ss2971373678	Nov 08, 2017 (151)
80	SWEGEN	ss3018829214	Nov 08, 2017 (151)
81	ILLUMINA	ss3022155083	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3028881127	Nov 08, 2017 (151)
83	CSHL	ss3352700308	Nov 08, 2017 (151)
84	ILLUMINA	ss3625795815	Oct 12, 2018 (152)
85	ILLUMINA	ss3628470512	Oct 12, 2018 (152)
86	ILLUMINA	ss3631796748	Oct 12, 2018 (152)
87	ILLUMINA	ss3633263548	Oct 12, 2018 (152)
88	ILLUMINA	ss3633978429	Oct 12, 2018 (152)
89	ILLUMINA	ss3634852606	Oct 12, 2018 (152)
90	ILLUMINA	ss3634852607	Oct 12, 2018 (152)
91	ILLUMINA	ss3635663198	Oct 12, 2018 (152)
92	ILLUMINA	ss3636548286	Oct 12, 2018 (152)
93	ILLUMINA	ss3637415353	Oct 12, 2018 (152)
94	ILLUMINA	ss3638365416	Oct 12, 2018 (152)
95	ILLUMINA	ss3639186503	Oct 12, 2018 (152)
96	ILLUMINA	ss3639896018	Oct 12, 2018 (152)
97	ILLUMINA	ss3640559904	Oct 12, 2018 (152)
98	ILLUMINA	ss3640559905	Oct 12, 2018 (152)
99	ILLUMINA	ss3641133373	Oct 12, 2018 (152)
100	ILLUMINA	ss3641429702	Oct 12, 2018 (152)
101	ILLUMINA	ss3643326701	Oct 12, 2018 (152)
102	ILLUMINA	ss3643943504	Oct 12, 2018 (152)
103	ILLUMINA	ss3644791378	Oct 12, 2018 (152)
104	ILLUMINA	ss3644791379	Oct 12, 2018 (152)
105	ILLUMINA	ss3652614346	Oct 12, 2018 (152)
106	EGCUT_WGS	ss3685405694	Jul 13, 2019 (153)
107	EVA_DECODE	ss3707655377	Jul 13, 2019 (153)
108	ILLUMINA	ss3725944180	Jul 13, 2019 (153)
109	ACPOP	ss3743697601	Jul 13, 2019 (153)
110	ILLUMINA	ss3744202691	Jul 13, 2019 (153)
111	ILLUMINA	ss3744497814	Jul 13, 2019 (153)
112	ILLUMINA	ss3745152467	Jul 13, 2019 (153)
113	ILLUMINA	ss3745152468	Jul 13, 2019 (153)
114	EVA	ss3759060273	Jul 13, 2019 (153)
115	PAGE_CC	ss3772070667	Jul 13, 2019 (153)
116	ILLUMINA	ss3772648538	Jul 13, 2019 (153)
117	ILLUMINA	ss3772648539	Jul 13, 2019 (153)
118	PACBIO	ss3788750848	Jul 13, 2019 (153)
119	PACBIO	ss3793626707	Jul 13, 2019 (153)
120	PACBIO	ss3798512830	Jul 13, 2019 (153)
121	KHV_HUMAN_GENOMES	ss3822227862	Jul 13, 2019 (153)
122	EVA	ss3835854123	Apr 27, 2020 (154)
123	EVA	ss3841553872	Apr 27, 2020 (154)
124	EVA	ss3847067425	Apr 27, 2020 (154)
125	HGDP	ss3847679482	Apr 27, 2020 (154)
126	SGDP_PRJ	ss3889922272	Apr 27, 2020 (154)
127	KRGDB	ss3940274810	Apr 27, 2020 (154)
128	KOGIC	ss3983024747	Apr 27, 2020 (154)
129	EVA	ss3984755618	Apr 26, 2021 (155)
130	EVA	ss3984755619	Apr 26, 2021 (155)
131	EVA	ss3985900737	Apr 26, 2021 (155)
132	EVA	ss4017865710	Apr 26, 2021 (155)
133	TOPMED	ss5100347349	Apr 26, 2021 (155)
134	TOMMO_GENOMICS	ss5231362095	Apr 26, 2021 (155)
135	1000G_HIGH_COVERAGE	ss5310087925	Oct 16, 2022 (156)
136	EVA	ss5316034723	Oct 16, 2022 (156)
137	EVA	ss5439644735	Oct 16, 2022 (156)
138	HUGCELL_USP	ss5502146828	Oct 16, 2022 (156)
139	EVA	ss5512311912	Oct 16, 2022 (156)
140	1000G_HIGH_COVERAGE	ss5617169929	Oct 16, 2022 (156)
141	SANFORD_IMAGENETICS	ss5663937993	Oct 16, 2022 (156)
142	TOMMO_GENOMICS	ss5791828665	Oct 16, 2022 (156)
143	EVA	ss5800032659	Oct 16, 2022 (156)
144	YY_MCH	ss5818412987	Oct 16, 2022 (156)
145	EVA	ss5838987323	Oct 16, 2022 (156)
146	EVA	ss5853288621	Oct 16, 2022 (156)
147	EVA	ss5892204672	Oct 16, 2022 (156)
148	EVA	ss5958830038	Oct 16, 2022 (156)
149	EVA	ss5981111721	Oct 16, 2022 (156)
150	1000Genomes	NC_000021.8 - 33832675	Oct 12, 2018 (152)
151	1000Genomes_30x	NC_000021.9 - 32460367	Oct 16, 2022 (156)
152	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 33832675	Oct 12, 2018 (152)
153	Genetic variation in the Estonian population	NC_000021.8 - 33832675	Oct 12, 2018 (152)
154	The Danish reference pan genome	NC_000021.8 - 33832675	Apr 27, 2020 (154)
155	gnomAD - Genomes	NC_000021.9 - 32460367	Apr 26, 2021 (155)
156	Genome of the Netherlands Release 5	NC_000021.8 - 33832675	Apr 27, 2020 (154)
157	HGDP-CEPH-db Supplement 1	NC_000021.7 - 32754546	Apr 27, 2020 (154)
158	HapMap	NC_000021.9 - 32460367	Apr 27, 2020 (154)
159	KOREAN population from KRGDB	NC_000021.8 - 33832675	Apr 27, 2020 (154)
160	Korean Genome Project	NC_000021.9 - 32460367	Apr 27, 2020 (154)
161	Northern Sweden	NC_000021.8 - 33832675	Jul 13, 2019 (153)
162	The PAGE Study	NC_000021.9 - 32460367	Jul 13, 2019 (153)
163	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 33832675	Apr 26, 2021 (155)
164	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 305195 (NC_000021.8:33832674:A:G 414/790) Row 305196 (NC_000021.8:33832674:A:G 414/790)	-	Apr 26, 2021 (155)
165	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 305195 (NC_000021.8:33832674:A:G 414/790) Row 305196 (NC_000021.8:33832674:A:G 414/790)	-	Apr 26, 2021 (155)
166	Qatari	NC_000021.8 - 33832675	Apr 27, 2020 (154)
167	SGDP_PRJ	NC_000021.8 - 33832675	Apr 27, 2020 (154)
168	Siberian	NC_000021.8 - 33832675	Apr 27, 2020 (154)
169	8.3KJPN	NC_000021.8 - 33832675	Apr 26, 2021 (155)
170	14KJPN	NC_000021.9 - 32460367	Oct 16, 2022 (156)
171	TopMed	NC_000021.9 - 32460367	Apr 26, 2021 (155)
172	UK 10K study - Twins	NC_000021.8 - 33832675	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000021.8 - 33832675	Jul 13, 2019 (153)
174	ALFA	NC_000021.9 - 32460367	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)
rs60914469	May 26, 2008 (130)
rs74314782	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
357374, ss82860494, ss112437422, ss113832320, ss117509957, ss169357354, ss171976854, ss204004053, ss244260697, ss255916325, ss283526753, ss292702981, ss481619977, ss1699146431, ss1713720076, ss2635109235, ss3639186503, ss3639896018, ss3643326701, ss3643943504, ss3847679482	NC_000021.7:32754545:A:G	NC_000021.9:32460366:A:G	(self)
79649775, 44075853, 31143942, 5811819, 19635901, 47452204, 16982466, 1126664, 20670666, 41939252, 11205472, 89331402, 44075853, 9726638, ss228541868, ss237966008, ss244108245, ss481650145, ss482617805, ss485604811, ss491565133, ss537492108, ss566468794, ss662379400, ss778980278, ss783248019, ss783481025, ss784201681, ss832508695, ss833121336, ss834442417, ss995076815, ss1082468687, ss1366135909, ss1429172355, ss1579646880, ss1639477251, ss1682471284, ss1752405744, ss1752405745, ss1809667185, ss1917950861, ss1938628744, ss1946562359, ss1946562362, ss1959949144, ss1959949145, ss1969215673, ss2030085419, ss2158689118, ss2629541411, ss2633842931, ss2704418644, ss2710949351, ss2971373678, ss3018829214, ss3022155083, ss3352700308, ss3625795815, ss3628470512, ss3631796748, ss3633263548, ss3633978429, ss3634852606, ss3634852607, ss3635663198, ss3636548286, ss3637415353, ss3638365416, ss3640559904, ss3640559905, ss3641133373, ss3641429702, ss3644791378, ss3644791379, ss3652614346, ss3685405694, ss3743697601, ss3744202691, ss3744497814, ss3745152467, ss3745152468, ss3759060273, ss3772648538, ss3772648539, ss3788750848, ss3793626707, ss3798512830, ss3835854123, ss3841553872, ss3889922272, ss3940274810, ss3984755618, ss3984755619, ss3985900737, ss4017865710, ss5231362095, ss5316034723, ss5439644735, ss5512311912, ss5663937993, ss5800032659, ss5838987323, ss5958830038, ss5981111721	NC_000021.8:33832674:A:G	NC_000021.9:32460366:A:G	(self)
104695864, 562149162, 2201709, 39402748, 1292136, 125665769, 375456295, 8514741454, ss2245470103, ss3028881127, ss3707655377, ss3725944180, ss3772070667, ss3822227862, ss3847067425, ss3983024747, ss5100347349, ss5310087925, ss5502146828, ss5617169929, ss5791828665, ss5818412987, ss5853288621, ss5892204672	NC_000021.9:32460366:A:G	NC_000021.9:32460366:A:G	(self)
ss14439012, ss16910820, ss17707757, ss21833789	NT_011512.9:19493071:A:G	NC_000021.9:32460366:A:G	(self)
ss135763, ss44261381, ss65720069, ss67808300, ss67977320, ss68281691, ss69252473, ss70938592, ss71541828, ss75510425, ss83555517, ss103817359, ss120241566, ss154435340, ss159610364, ss160896303, ss161358091, ss174456629	NT_011512.11:19494545:A:G	NC_000021.9:32460366:A:G	(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 rs762173

PMID	Title	Author	Year	Journal
19147119	Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.	Rosa-Rosa JM et al.	2009	American journal of human genetics

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

rs762173