Name: rs532345
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.

rs532345

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:42269381 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.365741 (96808/264690, TOPMED)
T=0.399833 (81869/204758, ALFA)
T=0.366337 (51271/139956, GnomAD) (+ 18 more)
T=0.22217 (6278/28258, 14KJPN)
T=0.22285 (3735/16760, 8.3KJPN)
T=0.3201 (2050/6404, 1000G_30x)
T=0.3141 (1573/5008, 1000G)
T=0.3475 (1557/4480, Estonian)
T=0.4066 (1567/3854, ALSPAC)
T=0.4097 (1519/3708, TWINSUK)
T=0.2038 (597/2930, KOREAN)
T=0.3589 (748/2084, HGDP_Stanford)
T=0.3302 (624/1890, HapMap)
T=0.2123 (389/1832, Korea1K)
T=0.456 (455/998, GoNL)
T=0.372 (223/600, NorthernSweden)
C=0.382 (110/288, SGDP_PRJ)
T=0.389 (84/216, Qatari)
T=0.41 (40/98, Ancient Sardinia)
C=0.40 (16/40, GENOME_DK)
C=0.39 (15/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCG1 : 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	204758	C=0.600167	T=0.399833
European	Sub	174896	C=0.590208	T=0.409792
African	Sub	9724	C=0.6788	T=0.3212
African Others	Sub	348	C=0.684	T=0.316
African American	Sub	9376	C=0.6786	T=0.3214
Asian	Sub	702	C=0.766	T=0.234
East Asian	Sub	556	C=0.763	T=0.237
Other Asian	Sub	146	C=0.781	T=0.219
Latin American 1	Sub	844	C=0.673	T=0.327
Latin American 2	Sub	6864	C=0.6186	T=0.3814
South Asian	Sub	5040	C=0.6976	T=0.3024
Other	Sub	6688	C=0.6272	T=0.3728

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=0.634259	T=0.365741
Allele Frequency Aggregator	Total	Global	204758	C=0.600167	T=0.399833
Allele Frequency Aggregator	European	Sub	174896	C=0.590208	T=0.409792
Allele Frequency Aggregator	African	Sub	9724	C=0.6788	T=0.3212
Allele Frequency Aggregator	Latin American 2	Sub	6864	C=0.6186	T=0.3814
Allele Frequency Aggregator	Other	Sub	6688	C=0.6272	T=0.3728
Allele Frequency Aggregator	South Asian	Sub	5040	C=0.6976	T=0.3024
Allele Frequency Aggregator	Latin American 1	Sub	844	C=0.673	T=0.327
Allele Frequency Aggregator	Asian	Sub	702	C=0.766	T=0.234
gnomAD - Genomes	Global	Study-wide	139956	C=0.633663	T=0.366337
gnomAD - Genomes	European	Sub	75796	C=0.60706	T=0.39294
gnomAD - Genomes	African	Sub	41932	C=0.68034	T=0.31966
gnomAD - Genomes	American	Sub	13632	C=0.61451	T=0.38549
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.6160	T=0.3840
gnomAD - Genomes	East Asian	Sub	3124	C=0.7644	T=0.2356
gnomAD - Genomes	Other	Sub	2152	C=0.6199	T=0.3801
14KJPN	JAPANESE	Study-wide	28258	C=0.77783	T=0.22217
8.3KJPN	JAPANESE	Study-wide	16760	C=0.77715	T=0.22285
1000Genomes_30x	Global	Study-wide	6404	C=0.6799	T=0.3201
1000Genomes_30x	African	Sub	1786	C=0.6764	T=0.3236
1000Genomes_30x	Europe	Sub	1266	C=0.5735	T=0.4265
1000Genomes_30x	South Asian	Sub	1202	C=0.7546	T=0.2454
1000Genomes_30x	East Asian	Sub	1170	C=0.7795	T=0.2205
1000Genomes_30x	American	Sub	980	C=0.613	T=0.387
1000Genomes	Global	Study-wide	5008	C=0.6859	T=0.3141
1000Genomes	African	Sub	1322	C=0.6778	T=0.3222
1000Genomes	East Asian	Sub	1008	C=0.7738	T=0.2262
1000Genomes	Europe	Sub	1006	C=0.5825	T=0.4175
1000Genomes	South Asian	Sub	978	C=0.763	T=0.237
1000Genomes	American	Sub	694	C=0.615	T=0.385
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6525	T=0.3475
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5934	T=0.4066
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5903	T=0.4097
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7962	A=0.0000, T=0.2038
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6411	T=0.3589
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.779	T=0.221
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.640	T=0.360
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.554	T=0.446
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.512	T=0.487
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.785	T=0.215
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.500	T=0.500
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.68	T=0.32
HapMap	Global	Study-wide	1890	C=0.6698	T=0.3302
HapMap	American	Sub	770	C=0.669	T=0.331
HapMap	African	Sub	690	C=0.643	T=0.357
HapMap	Asian	Sub	254	C=0.783	T=0.217
HapMap	Europe	Sub	176	C=0.614	T=0.386
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7877	T=0.2123
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.544	T=0.456
Northern Sweden	ACPOP	Study-wide	600	C=0.628	T=0.372
SGDP_PRJ	Global	Study-wide	288	C=0.382	T=0.618
Qatari	Global	Study-wide	216	C=0.611	T=0.389
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	98	C=0.59	T=0.41
The Danish reference pan genome	Danish	Study-wide	40	C=0.40	T=0.60
Siberian	Global	Study-wide	38	C=0.39	T=0.61

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.42269381C>A
GRCh38.p14 chr 21	NC_000021.9:g.42269381C>T
GRCh37.p13 chr 21	NC_000021.8:g.43689491C>A
GRCh37.p13 chr 21	NC_000021.8:g.43689491C>T

Gene: ABCG1, ATP binding cassette subfamily G member 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCG1 transcript variant 4	NM_004915.4:c.287-1689C>A	N/A	Intron Variant
ABCG1 transcript variant 2	NM_016818.3:c.287-1689C>A	N/A	Intron Variant
ABCG1 transcript variant 3	NM_207174.1:c.320-1689C>A	N/A	Intron Variant
ABCG1 transcript variant 5	NM_207627.2:c.293-1689C>A	N/A	Intron Variant
ABCG1 transcript variant 6	NM_207628.1:c.221-1689C>A	N/A	Intron Variant
ABCG1 transcript variant 7	NM_207629.2:c.278-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X1	XM_011529806.2:c.320-1689… XM_011529806.2:c.320-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X2	XM_011529807.4:c.320-1689… XM_011529807.4:c.320-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X6	XM_024452141.2:c.611-1689… XM_024452141.2:c.611-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X3	XM_047441053.1:c.320-1689… XM_047441053.1:c.320-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X4	XM_047441054.1:c.287-1689… XM_047441054.1:c.287-1689C>A	N/A	Intron Variant
ABCG1 transcript variant X5	XM_047441055.1:c.287-1689… XM_047441055.1:c.287-1689C>A	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=	A	T
GRCh38.p14 chr 21	NC_000021.9:g.42269381=	NC_000021.9:g.42269381C>A	NC_000021.9:g.42269381C>T
GRCh37.p13 chr 21	NC_000021.8:g.43689491=	NC_000021.8:g.43689491C>A	NC_000021.8:g.43689491C>T
ABCG1 transcript variant 4	NM_004915.3:c.287-1689=	NM_004915.3:c.287-1689C>A	NM_004915.3:c.287-1689C>T
ABCG1 transcript variant 4	NM_004915.4:c.287-1689=	NM_004915.4:c.287-1689C>A	NM_004915.4:c.287-1689C>T
ABCG1 transcript variant 2	NM_016818.2:c.287-1689=	NM_016818.2:c.287-1689C>A	NM_016818.2:c.287-1689C>T
ABCG1 transcript variant 2	NM_016818.3:c.287-1689=	NM_016818.3:c.287-1689C>A	NM_016818.3:c.287-1689C>T
ABCG1 transcript variant 3	NM_207174.1:c.320-1689=	NM_207174.1:c.320-1689C>A	NM_207174.1:c.320-1689C>T
ABCG1 transcript variant 5	NM_207627.1:c.293-1689=	NM_207627.1:c.293-1689C>A	NM_207627.1:c.293-1689C>T
ABCG1 transcript variant 5	NM_207627.2:c.293-1689=	NM_207627.2:c.293-1689C>A	NM_207627.2:c.293-1689C>T
ABCG1 transcript variant 6	NM_207628.1:c.221-1689=	NM_207628.1:c.221-1689C>A	NM_207628.1:c.221-1689C>T
ABCG1 transcript variant 7	NM_207629.1:c.278-1689=	NM_207629.1:c.278-1689C>A	NM_207629.1:c.278-1689C>T
ABCG1 transcript variant 7	NM_207629.2:c.278-1689=	NM_207629.2:c.278-1689C>A	NM_207629.2:c.278-1689C>T
ABCG1 transcript variant X1	XM_005261209.1:c.320-1689=	XM_005261209.1:c.320-1689C>A	XM_005261209.1:c.320-1689C>T
ABCG1 transcript variant X1	XM_011529806.2:c.320-1689=	XM_011529806.2:c.320-1689C>A	XM_011529806.2:c.320-1689C>T
ABCG1 transcript variant X2	XM_011529807.4:c.320-1689=	XM_011529807.4:c.320-1689C>A	XM_011529807.4:c.320-1689C>T
ABCG1 transcript variant X6	XM_024452141.2:c.611-1689=	XM_024452141.2:c.611-1689C>A	XM_024452141.2:c.611-1689C>T
ABCG1 transcript variant X3	XM_047441053.1:c.320-1689=	XM_047441053.1:c.320-1689C>A	XM_047441053.1:c.320-1689C>T
ABCG1 transcript variant X4	XM_047441054.1:c.287-1689=	XM_047441054.1:c.287-1689C>A	XM_047441054.1:c.287-1689C>T
ABCG1 transcript variant X5	XM_047441055.1:c.287-1689=	XM_047441055.1:c.287-1689C>A	XM_047441055.1:c.287-1689C>T

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#.

133 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss702903	Aug 11, 2000 (83)
2	KWOK	ss1837872	Oct 18, 2000 (87)
3	SC_JCM	ss2653742	Nov 09, 2000 (92)
4	TSC-CSHL	ss2742291	Jan 22, 2001 (92)
5	YUSUKE	ss4974363	Aug 28, 2002 (108)
6	TSC-CSHL	ss5481449	Oct 08, 2002 (108)
7	SC_JCM	ss5906592	Feb 20, 2003 (111)
8	BCM_SSAHASNP	ss10979415	Jul 11, 2003 (116)
9	SSAHASNP	ss21813973	Apr 05, 2004 (121)
10	PERLEGEN	ss24605161	Sep 20, 2004 (123)
11	ABI	ss44283173	Mar 15, 2006 (126)
12	ILLUMINA	ss65731727	Oct 15, 2006 (127)
13	ILLUMINA	ss66562226	Nov 30, 2006 (127)
14	ILLUMINA	ss67414234	Nov 30, 2006 (127)
15	ILLUMINA	ss67777854	Nov 30, 2006 (127)
16	PERLEGEN	ss69255336	May 17, 2007 (127)
17	ILLUMINA	ss70843914	May 26, 2008 (130)
18	ILLUMINA	ss71428232	May 17, 2007 (127)
19	ILLUMINA	ss75074377	Dec 07, 2007 (129)
20	HGSV	ss78340465	Dec 07, 2007 (129)
21	ILLUMINA	ss79207589	Dec 16, 2007 (130)
22	KRIBB_YJKIM	ss83476397	Dec 16, 2007 (130)
23	BCMHGSC_JDW	ss91850518	Mar 24, 2008 (129)
24	1000GENOMES	ss112504697	Jan 25, 2009 (130)
25	1000GENOMES	ss113948789	Jan 25, 2009 (130)
26	ILLUMINA	ss122461348	Dec 01, 2009 (131)
27	ENSEMBL	ss135595134	Dec 01, 2009 (131)
28	ENSEMBL	ss138322868	Dec 01, 2009 (131)
29	ILLUMINA	ss154337480	Dec 01, 2009 (131)
30	GMI	ss156948480	Dec 01, 2009 (131)
31	ILLUMINA	ss159514070	Dec 01, 2009 (131)
32	ILLUMINA	ss160740411	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss168112980	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss169614592	Jul 04, 2010 (132)
35	ILLUMINA	ss172022273	Jul 04, 2010 (132)
36	ILLUMINA	ss173914990	Jul 04, 2010 (132)
37	BUSHMAN	ss204028900	Jul 04, 2010 (132)
38	1000GENOMES	ss228585662	Jul 14, 2010 (132)
39	1000GENOMES	ss237997642	Jul 15, 2010 (132)
40	1000GENOMES	ss244133257	Jul 15, 2010 (132)
41	ILLUMINA	ss244302958	Jul 04, 2010 (132)
42	BL	ss255989384	May 09, 2011 (134)
43	GMI	ss283556141	May 04, 2012 (137)
44	GMI	ss287537880	Apr 25, 2013 (138)
45	PJP	ss292717891	May 09, 2011 (134)
46	ILLUMINA	ss481139759	May 04, 2012 (137)
47	ILLUMINA	ss481161912	May 04, 2012 (137)
48	ILLUMINA	ss482151010	Sep 08, 2015 (146)
49	ILLUMINA	ss485364969	May 04, 2012 (137)
50	ILLUMINA	ss537308238	Sep 08, 2015 (146)
51	TISHKOFF	ss566520693	Apr 25, 2013 (138)
52	SSMP	ss662431577	Apr 25, 2013 (138)
53	ILLUMINA	ss778928954	Sep 08, 2015 (146)
54	ILLUMINA	ss783128142	Sep 08, 2015 (146)
55	ILLUMINA	ss784084709	Sep 08, 2015 (146)
56	ILLUMINA	ss825538107	Apr 01, 2015 (144)
57	ILLUMINA	ss832387008	Sep 08, 2015 (146)
58	ILLUMINA	ss833025366	Jul 13, 2019 (153)
59	ILLUMINA	ss834390471	Sep 08, 2015 (146)
60	EVA-GONL	ss995156770	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1082529000	Aug 21, 2014 (142)
62	1000GENOMES	ss1366428836	Aug 21, 2014 (142)
63	DDI	ss1429196316	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1579678601	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1639638455	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1682632488	Apr 01, 2015 (144)
67	EVA_DECODE	ss1699228426	Apr 01, 2015 (144)
68	EVA_SVP	ss1713726730	Apr 01, 2015 (144)
69	ILLUMINA	ss1752410096	Sep 08, 2015 (146)
70	HAMMER_LAB	ss1809704963	Sep 08, 2015 (146)
71	WEILL_CORNELL_DGM	ss1938707239	Feb 12, 2016 (147)
72	GENOMED	ss1969234388	Jul 19, 2016 (147)
73	JJLAB	ss2030127895	Sep 14, 2016 (149)
74	USC_VALOUEV	ss2158732960	Dec 20, 2016 (150)
75	HUMAN_LONGEVITY	ss2246063941	Dec 20, 2016 (150)
76	SYSTEMSBIOZJU	ss2629563323	Nov 08, 2017 (151)
77	ILLUMINA	ss2633854517	Nov 08, 2017 (151)
78	GRF	ss2704464347	Nov 08, 2017 (151)
79	GNOMAD	ss2972180980	Nov 08, 2017 (151)
80	SWEGEN	ss3018950461	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3028903719	Nov 08, 2017 (151)
82	CSHL	ss3352737039	Nov 08, 2017 (151)
83	ILLUMINA	ss3628490759	Oct 12, 2018 (152)
84	ILLUMINA	ss3631807803	Oct 12, 2018 (152)
85	ILLUMINA	ss3633266808	Oct 12, 2018 (152)
86	ILLUMINA	ss3633981863	Oct 12, 2018 (152)
87	ILLUMINA	ss3634856985	Oct 12, 2018 (152)
88	ILLUMINA	ss3635666563	Oct 12, 2018 (152)
89	ILLUMINA	ss3636553034	Oct 12, 2018 (152)
90	ILLUMINA	ss3637418734	Oct 12, 2018 (152)
91	ILLUMINA	ss3638370454	Oct 12, 2018 (152)
92	ILLUMINA	ss3639189279	Oct 12, 2018 (152)
93	ILLUMINA	ss3639610484	Oct 12, 2018 (152)
94	ILLUMINA	ss3640564285	Oct 12, 2018 (152)
95	ILLUMINA	ss3641134898	Oct 12, 2018 (152)
96	ILLUMINA	ss3641431235	Oct 12, 2018 (152)
97	ILLUMINA	ss3643331203	Oct 12, 2018 (152)
98	URBANLAB	ss3651124121	Oct 12, 2018 (152)
99	EGCUT_WGS	ss3685528222	Jul 13, 2019 (153)
100	EVA_DECODE	ss3707805423	Jul 13, 2019 (153)
101	ACPOP	ss3743765024	Jul 13, 2019 (153)
102	ILLUMINA	ss3745156834	Jul 13, 2019 (153)
103	EVA	ss3759153037	Jul 13, 2019 (153)
104	ILLUMINA	ss3772652875	Jul 13, 2019 (153)
105	PACBIO	ss3788774101	Jul 13, 2019 (153)
106	PACBIO	ss3793647071	Jul 13, 2019 (153)
107	PACBIO	ss3798533374	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3822319330	Jul 13, 2019 (153)
109	EVA	ss3835894590	Apr 27, 2020 (154)
110	EVA	ss3841574722	Apr 27, 2020 (154)
111	EVA	ss3847088409	Apr 27, 2020 (154)
112	HGDP	ss3847682662	Apr 27, 2020 (154)
113	SGDP_PRJ	ss3890080465	Apr 27, 2020 (154)
114	KRGDB	ss3940426117	Apr 27, 2020 (154)
115	KOGIC	ss3983164144	Apr 27, 2020 (154)
116	EVA	ss3985906632	Apr 27, 2021 (155)
117	EVA	ss4017870349	Apr 27, 2021 (155)
118	TOPMED	ss5102808280	Apr 27, 2021 (155)
119	TOMMO_GENOMICS	ss5231688896	Apr 27, 2021 (155)
120	1000G_HIGH_COVERAGE	ss5310342823	Oct 13, 2022 (156)
121	EVA	ss5316041864	Oct 13, 2022 (156)
122	EVA	ss5440116655	Oct 13, 2022 (156)
123	HUGCELL_USP	ss5502379637	Oct 13, 2022 (156)
124	EVA	ss5512333532	Oct 13, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5617542729	Oct 13, 2022 (156)
126	SANFORD_IMAGENETICS	ss5664086731	Oct 13, 2022 (156)
127	TOMMO_GENOMICS	ss5792246924	Oct 13, 2022 (156)
128	EVA	ss5800035576	Oct 13, 2022 (156)
129	YY_MCH	ss5818475739	Oct 13, 2022 (156)
130	EVA	ss5839091676	Oct 13, 2022 (156)
131	EVA	ss5853322097	Oct 13, 2022 (156)
132	EVA	ss5892501697	Oct 13, 2022 (156)
133	EVA	ss5958985881	Oct 13, 2022 (156)
134	1000Genomes	NC_000021.8 - 43689491	Oct 12, 2018 (152)
135	1000Genomes_30x	NC_000021.9 - 42269381	Oct 13, 2022 (156)
136	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 43689491	Oct 12, 2018 (152)
137	Genetic variation in the Estonian population	NC_000021.8 - 43689491	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000021.8 - 43689491	Apr 27, 2020 (154)
139	gnomAD - Genomes	NC_000021.9 - 42269381	Apr 27, 2021 (155)
140	Genome of the Netherlands Release 5	NC_000021.8 - 43689491	Apr 27, 2020 (154)
141	HGDP-CEPH-db Supplement 1	NC_000021.7 - 42562560	Apr 27, 2020 (154)
142	HapMap	NC_000021.9 - 42269381	Apr 27, 2020 (154)
143	KOREAN population from KRGDB	NC_000021.8 - 43689491	Apr 27, 2020 (154)
144	Korean Genome Project	NC_000021.9 - 42269381	Apr 27, 2020 (154)
145	Northern Sweden	NC_000021.8 - 43689491	Jul 13, 2019 (153)
146	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 43689491	Apr 27, 2021 (155)
147	Qatari	NC_000021.8 - 43689491	Apr 27, 2020 (154)
148	SGDP_PRJ	NC_000021.8 - 43689491	Apr 27, 2020 (154)
149	Siberian	NC_000021.8 - 43689491	Apr 27, 2020 (154)
150	8.3KJPN	NC_000021.8 - 43689491	Apr 27, 2021 (155)
151	14KJPN	NC_000021.9 - 42269381	Oct 13, 2022 (156)
152	TopMed	NC_000021.9 - 42269381	Apr 27, 2021 (155)
153	UK 10K study - Twins	NC_000021.8 - 43689491	Oct 12, 2018 (152)
154	ALFA	NC_000021.9 - 42269381	Apr 27, 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)
rs1788363	Jan 18, 2001 (92)
rs3787993	Oct 08, 2002 (108)
rs17177697	Oct 07, 2004 (123)
rs61209715	May 26, 2008 (130)
rs386598347	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
47603511, ss3940426117	NC_000021.8:43689490:C:A	NC_000021.9:42269380:C:A	(self)
360554, ss78340465, ss91850518, ss112504697, ss113948789, ss168112980, ss169614592, ss204028900, ss255989384, ss283556141, ss287537880, ss292717891, ss481139759, ss825538107, ss1699228426, ss1713726730, ss3639189279, ss3639610484, ss3643331203, ss3847682662	NC_000021.7:42562559:C:T	NC_000021.9:42269380:C:T	(self)
79954055, 44253962, 31266470, 5843540, 19713592, 47603511, 17049889, 1132559, 20749161, 42097445, 11249314, 89658203, 44253962, ss228585662, ss237997642, ss244133257, ss481161912, ss482151010, ss485364969, ss537308238, ss566520693, ss662431577, ss778928954, ss783128142, ss784084709, ss832387008, ss833025366, ss834390471, ss995156770, ss1082529000, ss1366428836, ss1429196316, ss1579678601, ss1639638455, ss1682632488, ss1752410096, ss1809704963, ss1938707239, ss1969234388, ss2030127895, ss2158732960, ss2629563323, ss2633854517, ss2704464347, ss2972180980, ss3018950461, ss3352737039, ss3628490759, ss3631807803, ss3633266808, ss3633981863, ss3634856985, ss3635666563, ss3636553034, ss3637418734, ss3638370454, ss3640564285, ss3641134898, ss3641431235, ss3685528222, ss3743765024, ss3745156834, ss3759153037, ss3772652875, ss3788774101, ss3793647071, ss3798533374, ss3835894590, ss3841574722, ss3890080465, ss3940426117, ss3985906632, ss4017870349, ss5231688896, ss5316041864, ss5440116655, ss5512333532, ss5664086731, ss5800035576, ss5839091676, ss5958985881	NC_000021.8:43689490:C:T	NC_000021.9:42269380:C:T	(self)
105068664, 564165147, 2216957, 39542145, 126084028, 377917226, 2632726507, ss2246063941, ss3028903719, ss3651124121, ss3707805423, ss3822319330, ss3847088409, ss3983164144, ss5102808280, ss5310342823, ss5502379637, ss5617542729, ss5792246924, ss5818475739, ss5853322097, ss5892501697	NC_000021.9:42269380:C:T	NC_000021.9:42269380:C:T	(self)
ss702903, ss1837872, ss2653742, ss2742291, ss4974363, ss5481449, ss24605161, ss44283173, ss65731727, ss66562226, ss67414234, ss67777854, ss69255336, ss70843914, ss71428232, ss75074377, ss79207589, ss83476397, ss122461348, ss135595134, ss138322868, ss154337480, ss156948480, ss159514070, ss160740411, ss172022273, ss173914990, ss244302958	NT_011515.12:683931:C:T	NC_000021.9:42269380:C:T	(self)
ss5906592, ss10979415	NT_030188.2:438816:C:T	NC_000021.9:42269380:C:T	(self)
ss21813973	NT_030188.3:438816:C:T	NC_000021.9:42269380:C:T	(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 rs532345

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

rs532345