Name: rs225440
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.

rs225440

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:42232943 (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=0.456054 (120713/264690, TOPMED)
T=0.412852 (84666/205076, GENOGRAPHIC)
T=0.420085 (84895/202090, ALFA) (+ 20 more)
T=0.447621 (62709/140094, GnomAD)
T=0.24754 (6995/28258, 14KJPN)
T=0.24749 (4148/16760, 8.3KJPN)
T=0.4355 (2789/6404, 1000G_30x)
T=0.4295 (2151/5008, 1000G)
T=0.3473 (1556/4480, Estonian)
T=0.4017 (1548/3854, ALSPAC)
T=0.3932 (1458/3708, TWINSUK)
T=0.3082 (903/2930, KOREAN)
T=0.4237 (883/2084, HGDP_Stanford)
T=0.4294 (809/1884, HapMap)
T=0.2795 (512/1832, Korea1K)
T=0.414 (413/998, GoNL)
T=0.288 (173/600, NorthernSweden)
C=0.376 (124/330, SGDP_PRJ)
T=0.486 (105/216, Qatari)
T=0.257 (55/214, Vietnamese)
T=0.33 (13/40, GENOME_DK)
T=0.21 (8/38, Ancient Sardinia)
C=0.25 (9/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCG1 : 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	202090	C=0.579915	T=0.420085
European	Sub	174822	C=0.583965	T=0.416035
African	Sub	7094	C=0.4325	T=0.5675
African Others	Sub	264	C=0.413	T=0.587
African American	Sub	6830	C=0.4332	T=0.5668
Asian	Sub	702	C=0.704	T=0.296
East Asian	Sub	556	C=0.700	T=0.300
Other Asian	Sub	146	C=0.719	T=0.281
Latin American 1	Sub	844	C=0.570	T=0.430
Latin American 2	Sub	6906	C=0.6009	T=0.3991
South Asian	Sub	5042	C=0.6127	T=0.3873
Other	Sub	6680	C=0.5723	T=0.4277

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=0.543946	T=0.456054
Genographic Project	Global	Study-wide	205076	C=0.587148	T=0.412852
Allele Frequency Aggregator	Total	Global	202090	C=0.579915	T=0.420085
Allele Frequency Aggregator	European	Sub	174822	C=0.583965	T=0.416035
Allele Frequency Aggregator	African	Sub	7094	C=0.4325	T=0.5675
Allele Frequency Aggregator	Latin American 2	Sub	6906	C=0.6009	T=0.3991
Allele Frequency Aggregator	Other	Sub	6680	C=0.5723	T=0.4277
Allele Frequency Aggregator	South Asian	Sub	5042	C=0.6127	T=0.3873
Allele Frequency Aggregator	Latin American 1	Sub	844	C=0.570	T=0.430
Allele Frequency Aggregator	Asian	Sub	702	C=0.704	T=0.296
gnomAD - Genomes	Global	Study-wide	140094	C=0.552379	T=0.447621
gnomAD - Genomes	European	Sub	75874	C=0.61166	T=0.38834
gnomAD - Genomes	African	Sub	41966	C=0.43690	T=0.56310
gnomAD - Genomes	American	Sub	13652	C=0.57486	T=0.42514
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4380	T=0.5620
gnomAD - Genomes	East Asian	Sub	3128	C=0.6934	T=0.3066
gnomAD - Genomes	Other	Sub	2152	C=0.5432	T=0.4568
14KJPN	JAPANESE	Study-wide	28258	C=0.75246	T=0.24754
8.3KJPN	JAPANESE	Study-wide	16760	C=0.75251	T=0.24749
1000Genomes_30x	Global	Study-wide	6404	C=0.5645	T=0.4355
1000Genomes_30x	African	Sub	1786	C=0.3992	T=0.6008
1000Genomes_30x	Europe	Sub	1266	C=0.5837	T=0.4163
1000Genomes_30x	South Asian	Sub	1202	C=0.6323	T=0.3677
1000Genomes_30x	East Asian	Sub	1170	C=0.7060	T=0.2940
1000Genomes_30x	American	Sub	980	C=0.589	T=0.411
1000Genomes	Global	Study-wide	5008	C=0.5705	T=0.4295
1000Genomes	African	Sub	1322	C=0.4070	T=0.5930
1000Genomes	East Asian	Sub	1008	C=0.7083	T=0.2917
1000Genomes	Europe	Sub	1006	C=0.5905	T=0.4095
1000Genomes	South Asian	Sub	978	C=0.619	T=0.381
1000Genomes	American	Sub	694	C=0.585	T=0.415
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6527	T=0.3473
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5983	T=0.4017
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6068	T=0.3932
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6918	A=0.0000, T=0.3082
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.5763	T=0.4237
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.719	T=0.281
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.560	T=0.440
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.537	T=0.463
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.566	T=0.434
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.347	T=0.653
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.588	T=0.412
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.71	T=0.29
HapMap	Global	Study-wide	1884	C=0.5706	T=0.4294
HapMap	American	Sub	766	C=0.620	T=0.380
HapMap	African	Sub	688	C=0.468	T=0.532
HapMap	Asian	Sub	254	C=0.732	T=0.268
HapMap	Europe	Sub	176	C=0.523	T=0.477
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7205	T=0.2795
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.586	T=0.414
Northern Sweden	ACPOP	Study-wide	600	C=0.712	T=0.288
SGDP_PRJ	Global	Study-wide	330	C=0.376	T=0.624
Qatari	Global	Study-wide	216	C=0.514	T=0.486
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.743	T=0.257
The Danish reference pan genome	Danish	Study-wide	40	C=0.68	T=0.33
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	C=0.79	T=0.21
Siberian	Global	Study-wide	36	C=0.25	T=0.75

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.42232943C>A
GRCh38.p14 chr 21	NC_000021.9:g.42232943C>T
GRCh37.p13 chr 21	NC_000021.8:g.43653053C>A
GRCh37.p13 chr 21	NC_000021.8:g.43653053C>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.286+7029C>A	N/A	Intron Variant
ABCG1 transcript variant 2	NM_016818.3:c.286+7029C>A	N/A	Intron Variant
ABCG1 transcript variant 3	NM_207174.1:c.319+7029C>A	N/A	Intron Variant
ABCG1 transcript variant 5	NM_207627.2:c.292+7029C>A	N/A	Intron Variant
ABCG1 transcript variant 6	NM_207628.1:c.220+7029C>A	N/A	Intron Variant
ABCG1 transcript variant 7	NM_207629.2:c.277+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X1	XM_011529806.2:c.319+7029… XM_011529806.2:c.319+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X2	XM_011529807.4:c.319+7029… XM_011529807.4:c.319+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X3	XM_047441053.1:c.319+7029… XM_047441053.1:c.319+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X4	XM_047441054.1:c.286+7029… XM_047441054.1:c.286+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X5	XM_047441055.1:c.286+7029… XM_047441055.1:c.286+7029C>A	N/A	Intron Variant
ABCG1 transcript variant X6	XM_024452141.2: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.

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.42232943=	NC_000021.9:g.42232943C>A	NC_000021.9:g.42232943C>T
GRCh37.p13 chr 21	NC_000021.8:g.43653053=	NC_000021.8:g.43653053C>A	NC_000021.8:g.43653053C>T
ABCG1 transcript variant 4	NM_004915.3:c.286+7029=	NM_004915.3:c.286+7029C>A	NM_004915.3:c.286+7029C>T
ABCG1 transcript variant 4	NM_004915.4:c.286+7029=	NM_004915.4:c.286+7029C>A	NM_004915.4:c.286+7029C>T
ABCG1 transcript variant 2	NM_016818.2:c.286+7029=	NM_016818.2:c.286+7029C>A	NM_016818.2:c.286+7029C>T
ABCG1 transcript variant 2	NM_016818.3:c.286+7029=	NM_016818.3:c.286+7029C>A	NM_016818.3:c.286+7029C>T
ABCG1 transcript variant 3	NM_207174.1:c.319+7029=	NM_207174.1:c.319+7029C>A	NM_207174.1:c.319+7029C>T
ABCG1 transcript variant 5	NM_207627.1:c.292+7029=	NM_207627.1:c.292+7029C>A	NM_207627.1:c.292+7029C>T
ABCG1 transcript variant 5	NM_207627.2:c.292+7029=	NM_207627.2:c.292+7029C>A	NM_207627.2:c.292+7029C>T
ABCG1 transcript variant 6	NM_207628.1:c.220+7029=	NM_207628.1:c.220+7029C>A	NM_207628.1:c.220+7029C>T
ABCG1 transcript variant 7	NM_207629.1:c.277+7029=	NM_207629.1:c.277+7029C>A	NM_207629.1:c.277+7029C>T
ABCG1 transcript variant 7	NM_207629.2:c.277+7029=	NM_207629.2:c.277+7029C>A	NM_207629.2:c.277+7029C>T
ABCG1 transcript variant X1	XM_005261209.1:c.319+7029=	XM_005261209.1:c.319+7029C>A	XM_005261209.1:c.319+7029C>T
ABCG1 transcript variant X1	XM_011529806.2:c.319+7029=	XM_011529806.2:c.319+7029C>A	XM_011529806.2:c.319+7029C>T
ABCG1 transcript variant X2	XM_011529807.4:c.319+7029=	XM_011529807.4:c.319+7029C>A	XM_011529807.4:c.319+7029C>T
ABCG1 transcript variant X3	XM_047441053.1:c.319+7029=	XM_047441053.1:c.319+7029C>A	XM_047441053.1:c.319+7029C>T
ABCG1 transcript variant X4	XM_047441054.1:c.286+7029=	XM_047441054.1:c.286+7029C>A	XM_047441054.1:c.286+7029C>T
ABCG1 transcript variant X5	XM_047441055.1:c.286+7029=	XM_047441055.1:c.286+7029C>A	XM_047441055.1:c.286+7029C>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#.

130 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss292268	Jul 12, 2000 (79)
2	SC_JCM	ss520380	Jul 16, 2000 (80)
3	SC_JCM	ss644084	Aug 11, 2000 (85)
4	TSC-CSHL	ss1296342	Oct 05, 2000 (92)
5	KWOK	ss1837919	Oct 18, 2000 (87)
6	YUSUKE	ss5013714	Aug 28, 2002 (108)
7	RIKENSNPRC	ss5601789	Dec 12, 2002 (110)
8	SC_JCM	ss6193572	Feb 20, 2003 (111)
9	WUGSC_SSAHASNP	ss14438459	Dec 05, 2003 (119)
10	ABI	ss41477110	Mar 14, 2006 (126)
11	ILLUMINA	ss66542815	Nov 29, 2006 (127)
12	ILLUMINA	ss67238548	Nov 29, 2006 (127)
13	ILLUMINA	ss67635022	Nov 29, 2006 (127)
14	ILLUMINA	ss70716879	May 23, 2008 (130)
15	ILLUMINA	ss71284934	May 16, 2007 (127)
16	ILLUMINA	ss75073975	Dec 07, 2007 (129)
17	ILLUMINA	ss79123854	Dec 14, 2007 (130)
18	HGSV	ss81201208	Dec 14, 2007 (130)
19	KRIBB_YJKIM	ss83393093	Dec 14, 2007 (130)
20	HUMANGENOME_JCVI	ss96172264	Feb 03, 2009 (130)
21	1000GENOMES	ss112504502	Jan 25, 2009 (130)
22	1000GENOMES	ss113948267	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss117539283	Feb 14, 2009 (130)
24	ILLUMINA	ss121969645	Dec 01, 2009 (131)
25	ENSEMBL	ss135595187	Dec 01, 2009 (131)
26	ILLUMINA	ss153895406	Dec 01, 2009 (131)
27	ILLUMINA	ss159373256	Dec 01, 2009 (131)
28	ILLUMINA	ss160522832	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss168111943	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss169613510	Jul 04, 2010 (132)
31	ILLUMINA	ss171128920	Jul 04, 2010 (132)
32	ILLUMINA	ss173220126	Jul 04, 2010 (132)
33	BUSHMAN	ss204028818	Jul 04, 2010 (132)
34	1000GENOMES	ss228585508	Jul 14, 2010 (132)
35	1000GENOMES	ss237997502	Jul 15, 2010 (132)
36	1000GENOMES	ss244133182	Jul 15, 2010 (132)
37	ILLUMINA	ss244288731	Jul 04, 2010 (132)
38	GMI	ss283556062	May 04, 2012 (137)
39	PJP	ss292717833	May 09, 2011 (134)
40	ILLUMINA	ss480488792	May 04, 2012 (137)
41	ILLUMINA	ss480503160	May 04, 2012 (137)
42	ILLUMINA	ss481305602	Sep 08, 2015 (146)
43	ILLUMINA	ss485041954	May 04, 2012 (137)
44	ILLUMINA	ss537063357	Sep 08, 2015 (146)
45	TISHKOFF	ss566520490	Apr 25, 2013 (138)
46	SSMP	ss662431387	Apr 25, 2013 (138)
47	ILLUMINA	ss778488044	Sep 08, 2015 (146)
48	ILLUMINA	ss782967191	Sep 08, 2015 (146)
49	ILLUMINA	ss783928973	Sep 08, 2015 (146)
50	ILLUMINA	ss825454372	Apr 01, 2015 (144)
51	ILLUMINA	ss832223472	Sep 08, 2015 (146)
52	ILLUMINA	ss832885072	Jul 13, 2019 (153)
53	ILLUMINA	ss833944008	Sep 08, 2015 (146)
54	EVA-GONL	ss995156432	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1082528746	Aug 21, 2014 (142)
56	1000GENOMES	ss1366427662	Aug 21, 2014 (142)
57	DDI	ss1429196232	Apr 01, 2015 (144)
58	EVA_GENOME_DK	ss1579678485	Apr 01, 2015 (144)
59	EVA_UK10K_ALSPAC	ss1639637820	Apr 01, 2015 (144)
60	EVA_UK10K_TWINSUK	ss1682631853	Apr 01, 2015 (144)
61	EVA_DECODE	ss1699228123	Apr 01, 2015 (144)
62	EVA_SVP	ss1713726703	Apr 01, 2015 (144)
63	ILLUMINA	ss1752410065	Sep 08, 2015 (146)
64	HAMMER_LAB	ss1809704830	Sep 08, 2015 (146)
65	WEILL_CORNELL_DGM	ss1938706878	Feb 12, 2016 (147)
66	GENOMED	ss1969234326	Jul 19, 2016 (147)
67	JJLAB	ss2030127702	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2158732790	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2246061561	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2629563269	Nov 08, 2017 (151)
71	ILLUMINA	ss2633854457	Nov 08, 2017 (151)
72	GRF	ss2704464207	Nov 08, 2017 (151)
73	GNOMAD	ss2972177826	Nov 08, 2017 (151)
74	SWEGEN	ss3018949979	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3028903641	Nov 08, 2017 (151)
76	CSHL	ss3352736897	Nov 08, 2017 (151)
77	ILLUMINA	ss3628490665	Oct 12, 2018 (152)
78	ILLUMINA	ss3631807747	Oct 12, 2018 (152)
79	ILLUMINA	ss3633266778	Oct 12, 2018 (152)
80	ILLUMINA	ss3633981832	Oct 12, 2018 (152)
81	ILLUMINA	ss3634856954	Oct 12, 2018 (152)
82	ILLUMINA	ss3635666533	Oct 12, 2018 (152)
83	ILLUMINA	ss3636553001	Oct 12, 2018 (152)
84	ILLUMINA	ss3637418703	Oct 12, 2018 (152)
85	ILLUMINA	ss3638370418	Oct 12, 2018 (152)
86	ILLUMINA	ss3639189267	Oct 12, 2018 (152)
87	ILLUMINA	ss3639610476	Oct 12, 2018 (152)
88	ILLUMINA	ss3640564254	Oct 12, 2018 (152)
89	ILLUMINA	ss3643331185	Oct 12, 2018 (152)
90	URBANLAB	ss3651124041	Oct 12, 2018 (152)
91	EGCUT_WGS	ss3685527753	Jul 13, 2019 (153)
92	EVA_DECODE	ss3707804836	Jul 13, 2019 (153)
93	ACPOP	ss3743764765	Jul 13, 2019 (153)
94	ILLUMINA	ss3745156805	Jul 13, 2019 (153)
95	EVA	ss3759152670	Jul 13, 2019 (153)
96	ILLUMINA	ss3772652846	Jul 13, 2019 (153)
97	PACBIO	ss3788774012	Jul 13, 2019 (153)
98	PACBIO	ss3793646991	Jul 13, 2019 (153)
99	PACBIO	ss3798533295	Jul 13, 2019 (153)
100	KHV_HUMAN_GENOMES	ss3822318967	Jul 13, 2019 (153)
101	EVA	ss3835894396	Apr 27, 2020 (154)
102	EVA	ss3841574655	Apr 27, 2020 (154)
103	EVA	ss3847088342	Apr 27, 2020 (154)
104	HGDP	ss3847682646	Apr 27, 2020 (154)
105	SGDP_PRJ	ss3890079780	Apr 27, 2020 (154)
106	KRGDB	ss3940425444	Apr 27, 2020 (154)
107	KOGIC	ss3983163486	Apr 27, 2020 (154)
108	EVA	ss3985906603	Apr 27, 2021 (155)
109	EVA	ss4017870314	Apr 27, 2021 (155)
110	TOPMED	ss5102798851	Apr 27, 2021 (155)
111	TOMMO_GENOMICS	ss5231687570	Apr 27, 2021 (155)
112	1000G_HIGH_COVERAGE	ss5310341804	Oct 13, 2022 (156)
113	GENOGRAPHIC	ss5314583823	Oct 13, 2022 (156)
114	EVA	ss5316041828	Oct 13, 2022 (156)
115	EVA	ss5440114655	Oct 13, 2022 (156)
116	HUGCELL_USP	ss5502378668	Oct 13, 2022 (156)
117	EVA	ss5512333477	Oct 13, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5617541267	Oct 13, 2022 (156)
119	SANFORD_IMAGENETICS	ss5624497884	Oct 13, 2022 (156)
120	SANFORD_IMAGENETICS	ss5664086139	Oct 13, 2022 (156)
121	TOMMO_GENOMICS	ss5792245224	Oct 13, 2022 (156)
122	EVA	ss5800035550	Oct 13, 2022 (156)
123	YY_MCH	ss5818475507	Oct 13, 2022 (156)
124	EVA	ss5839091259	Oct 13, 2022 (156)
125	EVA	ss5847514653	Oct 13, 2022 (156)
126	EVA	ss5847935947	Oct 13, 2022 (156)
127	EVA	ss5853322010	Oct 13, 2022 (156)
128	EVA	ss5892500485	Oct 13, 2022 (156)
129	EVA	ss5958985256	Oct 13, 2022 (156)
130	EVA	ss5979630620	Oct 13, 2022 (156)
131	1000Genomes	NC_000021.8 - 43653053	Oct 12, 2018 (152)
132	1000Genomes_30x	NC_000021.9 - 42232943	Oct 13, 2022 (156)
133	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 43653053	Oct 12, 2018 (152)
134	Genetic variation in the Estonian population	NC_000021.8 - 43653053	Oct 12, 2018 (152)
135	Genographic Project	NC_000021.9 - 42232943	Oct 13, 2022 (156)
136	The Danish reference pan genome	NC_000021.8 - 43653053	Apr 27, 2020 (154)
137	gnomAD - Genomes	NC_000021.9 - 42232943	Apr 27, 2021 (155)
138	Genome of the Netherlands Release 5	NC_000021.8 - 43653053	Apr 27, 2020 (154)
139	HGDP-CEPH-db Supplement 1	NC_000021.7 - 42526122	Apr 27, 2020 (154)
140	HapMap	NC_000021.9 - 42232943	Apr 27, 2020 (154)
141	KOREAN population from KRGDB	NC_000021.8 - 43653053	Apr 27, 2020 (154)
142	Korean Genome Project	NC_000021.9 - 42232943	Apr 27, 2020 (154)
143	Northern Sweden	NC_000021.8 - 43653053	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 43653053	Apr 27, 2021 (155)
145	Qatari	NC_000021.8 - 43653053	Apr 27, 2020 (154)
146	SGDP_PRJ	NC_000021.8 - 43653053	Apr 27, 2020 (154)
147	Siberian	NC_000021.8 - 43653053	Apr 27, 2020 (154)
148	8.3KJPN	NC_000021.8 - 43653053	Apr 27, 2021 (155)
149	14KJPN	NC_000021.9 - 42232943	Oct 13, 2022 (156)
150	TopMed	NC_000021.9 - 42232943	Apr 27, 2021 (155)
151	UK 10K study - Twins	NC_000021.8 - 43653053	Oct 12, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000021.8 - 43653053	Jul 13, 2019 (153)
153	ALFA	NC_000021.9 - 42232943	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)
rs474673	Sep 19, 2000 (85)
rs872748	Jan 18, 2001 (92)
rs3827226	Oct 08, 2002 (108)
rs56980987	May 23, 2008 (130)
rs386562698	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
47602838, ss3940425444	NC_000021.8:43653052:C:A	NC_000021.9:42232942:C:A	(self)
360538, ss81201208, ss112504502, ss113948267, ss117539283, ss168111943, ss169613510, ss204028818, ss283556062, ss292717833, ss480488792, ss825454372, ss1699228123, ss1713726703, ss3639189267, ss3639610476, ss3643331185, ss3847682646	NC_000021.7:42526121:C:T	NC_000021.9:42232942:C:T	(self)
79952849, 44253287, 31266001, 5843424, 19713268, 47602838, 17049630, 1132530, 20748800, 42096760, 11249144, 89656877, 44253287, 9764881, ss228585508, ss237997502, ss244133182, ss480503160, ss481305602, ss485041954, ss537063357, ss566520490, ss662431387, ss778488044, ss782967191, ss783928973, ss832223472, ss832885072, ss833944008, ss995156432, ss1082528746, ss1366427662, ss1429196232, ss1579678485, ss1639637820, ss1682631853, ss1752410065, ss1809704830, ss1938706878, ss1969234326, ss2030127702, ss2158732790, ss2629563269, ss2633854457, ss2704464207, ss2972177826, ss3018949979, ss3352736897, ss3628490665, ss3631807747, ss3633266778, ss3633981832, ss3634856954, ss3635666533, ss3636553001, ss3637418703, ss3638370418, ss3640564254, ss3685527753, ss3743764765, ss3745156805, ss3759152670, ss3772652846, ss3788774012, ss3793646991, ss3798533295, ss3835894396, ss3841574655, ss3890079780, ss3940425444, ss3985906603, ss4017870314, ss5231687570, ss5316041828, ss5440114655, ss5512333477, ss5624497884, ss5664086139, ss5800035550, ss5839091259, ss5847514653, ss5847935947, ss5958985256, ss5979630620	NC_000021.8:43653052:C:T	NC_000021.9:42232942:C:T	(self)
105067202, 101524, 564157273, 2216880, 39541487, 126082328, 377907797, 1487675937, ss2246061561, ss3028903641, ss3651124041, ss3707804836, ss3822318967, ss3847088342, ss3983163486, ss5102798851, ss5310341804, ss5314583823, ss5502378668, ss5617541267, ss5792245224, ss5818475507, ss5853322010, ss5892500485	NC_000021.9:42232942:C:T	NC_000021.9:42232942:C:T	(self)
ss292268, ss520380, ss644084, ss1296342, ss1837919, ss5013714, ss5601789, ss41477110, ss66542815, ss67238548, ss67635022, ss70716879, ss71284934, ss75073975, ss79123854, ss83393093, ss96172264, ss121969645, ss135595187, ss153895406, ss159373256, ss160522832, ss171128920, ss173220126, ss244288731	NT_011515.12:647493:C:T	NC_000021.9:42232942:C:T	(self)
ss6193572	NT_030188.2:402378:C:T	NC_000021.9:42232942:C:T	(self)
ss14438459	NT_030188.3:402378:C:T	NC_000021.9:42232942:C:T	(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 rs225440

PMID	Title	Author	Year	Journal
26352872	ABCC5 and ABCG1 polymorphisms predict irinotecan-induced severe toxicity in metastatic colorectal cancer patients.	Chen S et al.	2015	Pharmacogenetics and genomics

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

rs225440