Name: rs2797604
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.

rs2797604

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:241864484 (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>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.338702 (89651/264690, TOPMED)
G=0.428661 (96615/225388, ALFA)
G=0.357151 (50019/140050, GnomAD) (+ 16 more)
G=0.34421 (9726/28256, 14KJPN)
G=0.34141 (5722/16760, 8.3KJPN)
G=0.3136 (2008/6404, 1000G_30x)
G=0.3185 (1595/5008, 1000G)
G=0.4538 (2033/4480, Estonian)
G=0.4595 (1771/3854, ALSPAC)
G=0.4663 (1729/3708, TWINSUK)
G=0.2943 (860/2922, KOREAN)
G=0.2820 (533/1890, HapMap)
G=0.459 (458/998, GoNL)
G=0.402 (241/600, NorthernSweden)
A=0.366 (104/284, SGDP_PRJ)
G=0.296 (64/216, Qatari)
G=0.262 (56/214, Vietnamese)
A=0.43 (19/44, Siberian)
A=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EXO1 : Intron Variant
Publications: 0 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	225388	A=0.571339	C=0.000000, G=0.428661
European	Sub	200110	A=0.551657	C=0.000000, G=0.448343
African	Sub	6652	A=0.8400	C=0.0000, G=0.1600
African Others	Sub	276	A=0.880	C=0.000, G=0.120
African American	Sub	6376	A=0.8383	C=0.0000, G=0.1617
Asian	Sub	3774	A=0.6900	C=0.0000, G=0.3100
East Asian	Sub	3062	A=0.7289	C=0.0000, G=0.2711
Other Asian	Sub	712	A=0.522	C=0.000, G=0.478
Latin American 1	Sub	944	A=0.668	C=0.000, G=0.332
Latin American 2	Sub	6414	A=0.7862	C=0.0000, G=0.2138
South Asian	Sub	288	A=0.590	C=0.000, G=0.410
Other	Sub	7206	A=0.6030	C=0.0000, G=0.3970

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	A=0.661298	G=0.338702
Allele Frequency Aggregator	Total	Global	225388	A=0.571339	C=0.000000, G=0.428661
Allele Frequency Aggregator	European	Sub	200110	A=0.551657	C=0.000000, G=0.448343
Allele Frequency Aggregator	Other	Sub	7206	A=0.6030	C=0.0000, G=0.3970
Allele Frequency Aggregator	African	Sub	6652	A=0.8400	C=0.0000, G=0.1600
Allele Frequency Aggregator	Latin American 2	Sub	6414	A=0.7862	C=0.0000, G=0.2138
Allele Frequency Aggregator	Asian	Sub	3774	A=0.6900	C=0.0000, G=0.3100
Allele Frequency Aggregator	Latin American 1	Sub	944	A=0.668	C=0.000, G=0.332
Allele Frequency Aggregator	South Asian	Sub	288	A=0.590	C=0.000, G=0.410
gnomAD - Genomes	Global	Study-wide	140050	A=0.642849	G=0.357151
gnomAD - Genomes	European	Sub	75830	A=0.54464	G=0.45536
gnomAD - Genomes	African	Sub	41982	A=0.80051	G=0.19949
gnomAD - Genomes	American	Sub	13644	A=0.69371	G=0.30629
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.6258	G=0.3742
gnomAD - Genomes	East Asian	Sub	3124	A=0.7132	G=0.2868
gnomAD - Genomes	Other	Sub	2146	A=0.6295	G=0.3705
14KJPN	JAPANESE	Study-wide	28256	A=0.65579	G=0.34421
8.3KJPN	JAPANESE	Study-wide	16760	A=0.65859	G=0.34141
1000Genomes_30x	Global	Study-wide	6404	A=0.6864	G=0.3136
1000Genomes_30x	African	Sub	1786	A=0.8460	G=0.1540
1000Genomes_30x	Europe	Sub	1266	A=0.5205	G=0.4795
1000Genomes_30x	South Asian	Sub	1202	A=0.5699	G=0.4301
1000Genomes_30x	East Asian	Sub	1170	A=0.7256	G=0.2744
1000Genomes_30x	American	Sub	980	A=0.706	G=0.294
1000Genomes	Global	Study-wide	5008	A=0.6815	G=0.3185
1000Genomes	African	Sub	1322	A=0.8411	G=0.1589
1000Genomes	East Asian	Sub	1008	A=0.7192	G=0.2808
1000Genomes	Europe	Sub	1006	A=0.5249	G=0.4751
1000Genomes	South Asian	Sub	978	A=0.570	G=0.430
1000Genomes	American	Sub	694	A=0.707	G=0.293
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5462	G=0.4538
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5405	G=0.4595
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5337	G=0.4663
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.7057	G=0.2943
HapMap	Global	Study-wide	1890	A=0.7180	G=0.2820
HapMap	American	Sub	770	A=0.623	G=0.377
HapMap	African	Sub	690	A=0.887	G=0.113
HapMap	Asian	Sub	254	A=0.681	G=0.319
HapMap	Europe	Sub	176	A=0.523	G=0.477
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.541	G=0.459
Northern Sweden	ACPOP	Study-wide	600	A=0.598	G=0.402
SGDP_PRJ	Global	Study-wide	284	A=0.366	G=0.634
Qatari	Global	Study-wide	216	A=0.704	G=0.296
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.738	G=0.262
Siberian	Global	Study-wide	44	A=0.43	G=0.57
The Danish reference pan genome	Danish	Study-wide	40	A=0.42	G=0.57

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.241864484A>C
GRCh38.p14 chr 1	NC_000001.11:g.241864484A>G
GRCh37.p13 chr 1	NC_000001.10:g.242027786A>C
GRCh37.p13 chr 1	NC_000001.10:g.242027786A>G
EXO1 RefSeqGene	NG_029100.2:g.21294A>C
EXO1 RefSeqGene	NG_029100.2:g.21294A>G

Gene: EXO1, exonuclease 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EXO1 transcript variant 4	NM_001319224.2:c.1042-234… NM_001319224.2:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant 3	NM_003686.4:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant 1	NM_006027.4:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant 2	NM_130398.4:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X1	XM_006711840.3:c.1042-234… XM_006711840.3:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X2	XM_011544321.3:c.1042-234… XM_011544321.3:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X4	XM_011544322.2:c.1042-234… XM_011544322.2:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X6	XM_011544323.3:c.1042-234… XM_011544323.3:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X11	XM_011544324.3:c.922-2346… XM_011544324.3:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X18	XM_011544325.2:c.-69-2101… XM_011544325.2:c.-69-2101A>C	N/A	Intron Variant
EXO1 transcript variant X10	XM_017002793.3:c.922-2346… XM_017002793.3:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X3	XM_047434104.1:c.1042-234… XM_047434104.1:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X5	XM_047434106.1:c.1042-234… XM_047434106.1:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X7	XM_047434107.1:c.1042-234… XM_047434107.1:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X8	XM_047434108.1:c.1042-234… XM_047434108.1:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X9	XM_047434112.1:c.1042-234… XM_047434112.1:c.1042-2346A>C	N/A	Intron Variant
EXO1 transcript variant X12	XM_047434121.1:c.922-2346… XM_047434121.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X13	XM_047434129.1:c.922-2346… XM_047434129.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X14	XM_047434130.1:c.922-2346… XM_047434130.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X15	XM_047434139.1:c.922-2346… XM_047434139.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X16	XM_047434150.1:c.922-2346… XM_047434150.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X17	XM_047434155.1:c.922-2346… XM_047434155.1:c.922-2346A>C	N/A	Intron Variant
EXO1 transcript variant X19	XM_047434160.1:c.-69-2101… XM_047434160.1:c.-69-2101A>C	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	A=	C	G
GRCh38.p14 chr 1	NC_000001.11:g.241864484=	NC_000001.11:g.241864484A>C	NC_000001.11:g.241864484A>G
GRCh37.p13 chr 1	NC_000001.10:g.242027786=	NC_000001.10:g.242027786A>C	NC_000001.10:g.242027786A>G
EXO1 RefSeqGene	NG_029100.2:g.21294=	NG_029100.2:g.21294A>C	NG_029100.2:g.21294A>G
EXO1 transcript variant 4	NM_001319224.2:c.1042-2346=	NM_001319224.2:c.1042-2346A>C	NM_001319224.2:c.1042-2346A>G
EXO1 transcript variant 3	NM_003686.4:c.1042-2346=	NM_003686.4:c.1042-2346A>C	NM_003686.4:c.1042-2346A>G
EXO1 transcript variant 1	NM_006027.4:c.1042-2346=	NM_006027.4:c.1042-2346A>C	NM_006027.4:c.1042-2346A>G
EXO1 transcript variant 2	NM_130398.3:c.1042-2346=	NM_130398.3:c.1042-2346A>C	NM_130398.3:c.1042-2346A>G
EXO1 transcript variant 2	NM_130398.4:c.1042-2346=	NM_130398.4:c.1042-2346A>C	NM_130398.4:c.1042-2346A>G
EXO1 transcript variant X1	XM_005273350.1:c.1042-2346=	XM_005273350.1:c.1042-2346A>C	XM_005273350.1:c.1042-2346A>G
EXO1 transcript variant X1	XM_006711840.3:c.1042-2346=	XM_006711840.3:c.1042-2346A>C	XM_006711840.3:c.1042-2346A>G
EXO1 transcript variant X2	XM_011544321.3:c.1042-2346=	XM_011544321.3:c.1042-2346A>C	XM_011544321.3:c.1042-2346A>G
EXO1 transcript variant X4	XM_011544322.2:c.1042-2346=	XM_011544322.2:c.1042-2346A>C	XM_011544322.2:c.1042-2346A>G
EXO1 transcript variant X6	XM_011544323.3:c.1042-2346=	XM_011544323.3:c.1042-2346A>C	XM_011544323.3:c.1042-2346A>G
EXO1 transcript variant X11	XM_011544324.3:c.922-2346=	XM_011544324.3:c.922-2346A>C	XM_011544324.3:c.922-2346A>G
EXO1 transcript variant X18	XM_011544325.2:c.-69-2101=	XM_011544325.2:c.-69-2101A>C	XM_011544325.2:c.-69-2101A>G
EXO1 transcript variant X10	XM_017002793.3:c.922-2346=	XM_017002793.3:c.922-2346A>C	XM_017002793.3:c.922-2346A>G
EXO1 transcript variant X3	XM_047434104.1:c.1042-2346=	XM_047434104.1:c.1042-2346A>C	XM_047434104.1:c.1042-2346A>G
EXO1 transcript variant X5	XM_047434106.1:c.1042-2346=	XM_047434106.1:c.1042-2346A>C	XM_047434106.1:c.1042-2346A>G
EXO1 transcript variant X7	XM_047434107.1:c.1042-2346=	XM_047434107.1:c.1042-2346A>C	XM_047434107.1:c.1042-2346A>G
EXO1 transcript variant X8	XM_047434108.1:c.1042-2346=	XM_047434108.1:c.1042-2346A>C	XM_047434108.1:c.1042-2346A>G
EXO1 transcript variant X9	XM_047434112.1:c.1042-2346=	XM_047434112.1:c.1042-2346A>C	XM_047434112.1:c.1042-2346A>G
EXO1 transcript variant X12	XM_047434121.1:c.922-2346=	XM_047434121.1:c.922-2346A>C	XM_047434121.1:c.922-2346A>G
EXO1 transcript variant X13	XM_047434129.1:c.922-2346=	XM_047434129.1:c.922-2346A>C	XM_047434129.1:c.922-2346A>G
EXO1 transcript variant X14	XM_047434130.1:c.922-2346=	XM_047434130.1:c.922-2346A>C	XM_047434130.1:c.922-2346A>G
EXO1 transcript variant X15	XM_047434139.1:c.922-2346=	XM_047434139.1:c.922-2346A>C	XM_047434139.1:c.922-2346A>G
EXO1 transcript variant X16	XM_047434150.1:c.922-2346=	XM_047434150.1:c.922-2346A>C	XM_047434150.1:c.922-2346A>G
EXO1 transcript variant X17	XM_047434155.1:c.922-2346=	XM_047434155.1:c.922-2346A>C	XM_047434155.1:c.922-2346A>G
EXO1 transcript variant X19	XM_047434160.1:c.-69-2101=	XM_047434160.1:c.-69-2101A>C	XM_047434160.1:c.-69-2101A>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#.

99 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3962152	Sep 28, 2001 (100)
2	SC_SNP	ss15386986	Feb 27, 2004 (120)
3	PERLEGEN	ss24635502	Sep 20, 2004 (123)
4	ABI	ss44090404	Mar 14, 2006 (126)
5	PERLEGEN	ss68799294	May 17, 2007 (127)
6	ILLUMINA	ss75032590	Dec 07, 2007 (129)
7	HGSV	ss82932848	Dec 15, 2007 (130)
8	BGI	ss102838491	Dec 01, 2009 (131)
9	KRIBB_YJKIM	ss119445852	Dec 01, 2009 (131)
10	GMI	ss156509634	Dec 01, 2009 (131)
11	ILLUMINA	ss160579652	Dec 01, 2009 (131)
12	ILLUMINA	ss173465403	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss205290895	Jul 04, 2010 (132)
14	1000GENOMES	ss210479425	Jul 14, 2010 (132)
15	1000GENOMES	ss210782957	Jul 14, 2010 (132)
16	1000GENOMES	ss218981977	Jul 14, 2010 (132)
17	1000GENOMES	ss230977481	Jul 14, 2010 (132)
18	1000GENOMES	ss238576621	Jul 15, 2010 (132)
19	ILLUMINA	ss244291964	Jul 04, 2010 (132)
20	BL	ss253925442	May 09, 2011 (134)
21	GMI	ss276291707	May 04, 2012 (137)
22	GMI	ss284261869	Apr 25, 2013 (138)
23	PJP	ss290772222	May 09, 2011 (134)
24	ILLUMINA	ss480665154	May 04, 2012 (137)
25	ILLUMINA	ss480680606	May 04, 2012 (137)
26	ILLUMINA	ss481532700	Sep 08, 2015 (146)
27	ILLUMINA	ss485127486	May 04, 2012 (137)
28	ILLUMINA	ss537127298	Sep 08, 2015 (146)
29	TISHKOFF	ss555258146	Apr 25, 2013 (138)
30	SSMP	ss648832360	Apr 25, 2013 (138)
31	ILLUMINA	ss778879168	Sep 08, 2015 (146)
32	ILLUMINA	ss783010074	Sep 08, 2015 (146)
33	ILLUMINA	ss783970352	Sep 08, 2015 (146)
34	ILLUMINA	ss832267402	Sep 08, 2015 (146)
35	ILLUMINA	ss834340159	Sep 08, 2015 (146)
36	EVA-GONL	ss976338114	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1068748458	Aug 21, 2014 (142)
38	1000GENOMES	ss1295362218	Aug 21, 2014 (142)
39	DDI	ss1426169485	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1574803808	Apr 01, 2015 (144)
41	EVA_DECODE	ss1585742697	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1602522524	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1645516557	Apr 01, 2015 (144)
44	EVA_SVP	ss1712420569	Apr 01, 2015 (144)
45	ILLUMINA	ss1751909551	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1919559989	Feb 12, 2016 (147)
47	GENOMED	ss1967019927	Jul 19, 2016 (147)
48	JJLAB	ss2020307856	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2148345802	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2171552056	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2624667307	Nov 08, 2017 (151)
52	ILLUMINA	ss2632654214	Nov 08, 2017 (151)
53	ILLUMINA	ss2635009142	Nov 08, 2017 (151)
54	GRF	ss2698349570	Nov 08, 2017 (151)
55	ILLUMINA	ss2710699179	Nov 08, 2017 (151)
56	GNOMAD	ss2768212193	Nov 08, 2017 (151)
57	AFFY	ss2985544801	Nov 08, 2017 (151)
58	SWEGEN	ss2988747365	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3023916446	Nov 08, 2017 (151)
60	CSHL	ss3343999586	Nov 08, 2017 (151)
61	ILLUMINA	ss3626351970	Oct 11, 2018 (152)
62	ILLUMINA	ss3630682867	Oct 11, 2018 (152)
63	ILLUMINA	ss3632932719	Oct 11, 2018 (152)
64	ILLUMINA	ss3633629098	Oct 11, 2018 (152)
65	ILLUMINA	ss3634382748	Oct 11, 2018 (152)
66	ILLUMINA	ss3635322039	Oct 11, 2018 (152)
67	ILLUMINA	ss3636062027	Oct 11, 2018 (152)
68	ILLUMINA	ss3637072601	Oct 11, 2018 (152)
69	ILLUMINA	ss3637825245	Oct 11, 2018 (152)
70	ILLUMINA	ss3640090101	Oct 11, 2018 (152)
71	ILLUMINA	ss3642830649	Oct 11, 2018 (152)
72	EGCUT_WGS	ss3656709016	Jul 12, 2019 (153)
73	EVA_DECODE	ss3688988880	Jul 12, 2019 (153)
74	ACPOP	ss3728024809	Jul 12, 2019 (153)
75	ILLUMINA	ss3744683642	Jul 12, 2019 (153)
76	EVA	ss3747561406	Jul 12, 2019 (153)
77	ILLUMINA	ss3772184407	Jul 12, 2019 (153)
78	KHV_HUMAN_GENOMES	ss3800565189	Jul 12, 2019 (153)
79	EVA	ss3826741725	Apr 25, 2020 (154)
80	EVA	ss3836773622	Apr 25, 2020 (154)
81	EVA	ss3842186603	Apr 25, 2020 (154)
82	SGDP_PRJ	ss3851275708	Apr 25, 2020 (154)
83	KRGDB	ss3896636361	Apr 25, 2020 (154)
84	EVA	ss4016972593	Apr 25, 2021 (155)
85	TOPMED	ss4489707619	Apr 25, 2021 (155)
86	TOMMO_GENOMICS	ss5149245218	Apr 25, 2021 (155)
87	1000G_HIGH_COVERAGE	ss5246421766	Oct 17, 2022 (156)
88	EVA	ss5314698162	Oct 17, 2022 (156)
89	EVA	ss5325927139	Oct 17, 2022 (156)
90	HUGCELL_USP	ss5446800234	Oct 17, 2022 (156)
91	1000G_HIGH_COVERAGE	ss5520829193	Oct 17, 2022 (156)
92	SANFORD_IMAGENETICS	ss5627806638	Oct 17, 2022 (156)
93	TOMMO_GENOMICS	ss5677240588	Oct 17, 2022 (156)
94	EVA	ss5799517836	Oct 17, 2022 (156)
95	YY_MCH	ss5801801374	Oct 17, 2022 (156)
96	EVA	ss5833518282	Oct 17, 2022 (156)
97	EVA	ss5849368796	Oct 17, 2022 (156)
98	EVA	ss5912692764	Oct 17, 2022 (156)
99	EVA	ss5939657416	Oct 17, 2022 (156)
100	1000Genomes	NC_000001.10 - 242027786	Oct 11, 2018 (152)
101	1000Genomes_30x	NC_000001.11 - 241864484	Oct 17, 2022 (156)
102	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 242027786	Oct 11, 2018 (152)
103	Genetic variation in the Estonian population	NC_000001.10 - 242027786	Oct 11, 2018 (152)
104	The Danish reference pan genome	NC_000001.10 - 242027786	Apr 25, 2020 (154)
105	gnomAD - Genomes	NC_000001.11 - 241864484	Apr 25, 2021 (155)
106	Genome of the Netherlands Release 5	NC_000001.10 - 242027786	Apr 25, 2020 (154)
107	HapMap	NC_000001.11 - 241864484	Apr 25, 2020 (154)
108	KOREAN population from KRGDB	NC_000001.10 - 242027786	Apr 25, 2020 (154)
109	Northern Sweden	NC_000001.10 - 242027786	Jul 12, 2019 (153)
110	Qatari	NC_000001.10 - 242027786	Apr 25, 2020 (154)
111	SGDP_PRJ	NC_000001.10 - 242027786	Apr 25, 2020 (154)
112	Siberian	NC_000001.10 - 242027786	Apr 25, 2020 (154)
113	8.3KJPN	NC_000001.10 - 242027786	Apr 25, 2021 (155)
114	14KJPN	NC_000001.11 - 241864484	Oct 17, 2022 (156)
115	TopMed	NC_000001.11 - 241864484	Apr 25, 2021 (155)
116	UK 10K study - Twins	NC_000001.10 - 242027786	Oct 11, 2018 (152)
117	A Vietnamese Genetic Variation Database	NC_000001.10 - 242027786	Jul 12, 2019 (153)
118	ALFA	NC_000001.11 - 241864484	Apr 25, 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)
rs17391585	Oct 07, 2004 (123)
rs60024094	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1047423314	NC_000001.11:241864483:A:C	NC_000001.11:241864483:A:C	(self)
ss82932848	NC_000001.8:238353826:A:G	NC_000001.11:241864483:A:G	(self)
ss205290895, ss210479425, ss210782957, ss253925442, ss276291707, ss284261869, ss290772222, ss480665154, ss1585742697, ss1712420569, ss2635009142, ss3642830649	NC_000001.9:240094408:A:G	NC_000001.11:241864483:A:G	(self)
6243544, 3460414, 2447264, 1963352, 1516037, 3813755, 1309674, 1601919, 3292688, 862156, 7214525, 3460414, 754960, ss218981977, ss230977481, ss238576621, ss480680606, ss481532700, ss485127486, ss537127298, ss555258146, ss648832360, ss778879168, ss783010074, ss783970352, ss832267402, ss834340159, ss976338114, ss1068748458, ss1295362218, ss1426169485, ss1574803808, ss1602522524, ss1645516557, ss1751909551, ss1919559989, ss1967019927, ss2020307856, ss2148345802, ss2624667307, ss2632654214, ss2698349570, ss2710699179, ss2768212193, ss2985544801, ss2988747365, ss3343999586, ss3626351970, ss3630682867, ss3632932719, ss3633629098, ss3634382748, ss3635322039, ss3636062027, ss3637072601, ss3637825245, ss3640090101, ss3656709016, ss3728024809, ss3744683642, ss3747561406, ss3772184407, ss3826741725, ss3836773622, ss3851275708, ss3896636361, ss4016972593, ss5149245218, ss5314698162, ss5325927139, ss5627806638, ss5799517836, ss5833518282, ss5939657416	NC_000001.10:242027785:A:G	NC_000001.11:241864483:A:G	(self)
8355128, 44660189, 307580, 11077692, 53313954, 1047423314, ss2171552056, ss3023916446, ss3688988880, ss3800565189, ss3842186603, ss4489707619, ss5246421766, ss5446800234, ss5520829193, ss5677240588, ss5801801374, ss5849368796, ss5912692764	NC_000001.11:241864483:A:G	NC_000001.11:241864483:A:G	(self)
ss15386986	NT_004836.15:6785574:A:G	NC_000001.11:241864483:A:G	(self)
ss3962152, ss24635502, ss44090404, ss68799294, ss75032590, ss102838491, ss119445852, ss156509634, ss160579652, ss173465403, ss244291964	NT_167186.1:35545564:A:G	NC_000001.11:241864483:A:G	(self)

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

No publications for rs2797604

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

rs2797604