Name: rs2229774
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.

rs2229774

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:53211761 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.069347 (24639/355298, ALFA)
A=0.069546 (18408/264690, TOPMED)
A=0.073379 (15716/214176, GnomAD_exome) (+ 27 more)
A=0.070584 (9893/140160, GnomAD)
A=0.080910 (9597/118614, ExAC)
A=0.06668 (5246/78678, PAGE_STUDY)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
A=0.07297 (949/13006, GO-ESP)
A=0.0879 (563/6404, 1000G_30x)
A=0.0877 (439/5008, 1000G)
A=0.0654 (293/4480, Estonian)
A=0.0685 (264/3854, ALSPAC)
A=0.0677 (251/3708, TWINSUK)
A=0.0000 (0/2922, KOREAN)
A=0.0782 (163/2084, HGDP_Stanford)
A=0.0921 (159/1726, HapMap)
A=0.0883 (100/1132, Daghestan)
A=0.075 (75/998, GoNL)
A=0.001 (1/792, PRJEB37584)
A=0.045 (28/626, Chileans)
A=0.118 (71/600, NorthernSweden)
A=0.067 (36/534, MGP)
A=0.046 (14/304, FINRISK)
A=0.153 (33/216, Qatari)
G=0.40 (36/90, SGDP_PRJ)
A=0.23 (18/80, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: RARG : Missense Variant
Publications: 11 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	371594	G=0.930642	A=0.069358
European	Sub	314272	G=0.932116	A=0.067884
African	Sub	14572	G=0.91847	A=0.08153
African Others	Sub	520	G=0.931	A=0.069
African American	Sub	14052	G=0.91802	A=0.08198
Asian	Sub	4028	G=0.9615	A=0.0385
East Asian	Sub	3194	G=0.9991	A=0.0009
Other Asian	Sub	834	G=0.818	A=0.182
Latin American 1	Sub	1630	G=0.9160	A=0.0840
Latin American 2	Sub	9398	G=0.9566	A=0.0434
South Asian	Sub	5232	G=0.8364	A=0.1636
Other	Sub	22462	G=0.92454	A=0.07546

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	355298	G=0.930653	A=0.069347
Allele Frequency Aggregator	European	Sub	304238	G=0.931987	A=0.068013
Allele Frequency Aggregator	Other	Sub	21022	G=0.92427	A=0.07573
Allele Frequency Aggregator	African	Sub	9750	G=0.9181	A=0.0819
Allele Frequency Aggregator	Latin American 2	Sub	9398	G=0.9566	A=0.0434
Allele Frequency Aggregator	South Asian	Sub	5232	G=0.8364	A=0.1636
Allele Frequency Aggregator	Asian	Sub	4028	G=0.9615	A=0.0385
Allele Frequency Aggregator	Latin American 1	Sub	1630	G=0.9160	A=0.0840
TopMed	Global	Study-wide	264690	G=0.930454	A=0.069546
gnomAD - Exomes	Global	Study-wide	214176	G=0.926621	A=0.073379
gnomAD - Exomes	European	Sub	120420	G=0.933167	A=0.066833
gnomAD - Exomes	Asian	Sub	39640	G=0.87818	A=0.12182
gnomAD - Exomes	American	Sub	26858	G=0.96910	A=0.03090
gnomAD - Exomes	African	Sub	13414	G=0.91598	A=0.08402
gnomAD - Exomes	Ashkenazi Jewish	Sub	8838	G=0.9424	A=0.0576
gnomAD - Exomes	Other	Sub	5006	G=0.9255	A=0.0745
gnomAD - Genomes	Global	Study-wide	140160	G=0.929416	A=0.070584
gnomAD - Genomes	European	Sub	75898	G=0.93200	A=0.06800
gnomAD - Genomes	African	Sub	42002	G=0.91522	A=0.08478
gnomAD - Genomes	American	Sub	13650	G=0.94081	A=0.05919
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9407	A=0.0593
gnomAD - Genomes	East Asian	Sub	3132	G=0.9958	A=0.0042
gnomAD - Genomes	Other	Sub	2154	G=0.9290	A=0.0710
ExAC	Global	Study-wide	118614	G=0.919090	A=0.080910
ExAC	Europe	Sub	72238	G=0.93045	A=0.06955
ExAC	Asian	Sub	24276	G=0.86740	A=0.13260
ExAC	American	Sub	11252	G=0.96898	A=0.03102
ExAC	African	Sub	9972	G=0.9079	A=0.0921
ExAC	Other	Sub	876	G=0.901	A=0.099
The PAGE Study	Global	Study-wide	78678	G=0.93332	A=0.06668
The PAGE Study	AfricanAmerican	Sub	32506	G=0.91885	A=0.08115
The PAGE Study	Mexican	Sub	10804	G=0.95955	A=0.04045
The PAGE Study	Asian	Sub	8316	G=0.9957	A=0.0043
The PAGE Study	PuertoRican	Sub	7916	G=0.9289	A=0.0711
The PAGE Study	NativeHawaiian	Sub	4534	G=0.8952	A=0.1048
The PAGE Study	Cuban	Sub	4228	G=0.9222	A=0.0778
The PAGE Study	Dominican	Sub	3828	G=0.9300	A=0.0700
The PAGE Study	CentralAmerican	Sub	2450	G=0.9518	A=0.0482
The PAGE Study	SouthAmerican	Sub	1982	G=0.9541	A=0.0459
The PAGE Study	NativeAmerican	Sub	1260	G=0.9270	A=0.0730
The PAGE Study	SouthAsian	Sub	854	G=0.767	A=0.233
14KJPN	JAPANESE	Study-wide	28258	G=0.99996	A=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99994	A=0.00006
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.92703	A=0.07297
GO Exome Sequencing Project	European American	Sub	8600	G=0.9351	A=0.0649
GO Exome Sequencing Project	African American	Sub	4406	G=0.9113	A=0.0887
1000Genomes_30x	Global	Study-wide	6404	G=0.9121	A=0.0879
1000Genomes_30x	African	Sub	1786	G=0.9054	A=0.0946
1000Genomes_30x	Europe	Sub	1266	G=0.9376	A=0.0624
1000Genomes_30x	South Asian	Sub	1202	G=0.7770	A=0.2230
1000Genomes_30x	East Asian	Sub	1170	G=0.9957	A=0.0043
1000Genomes_30x	American	Sub	980	G=0.957	A=0.043
1000Genomes	Global	Study-wide	5008	G=0.9123	A=0.0877
1000Genomes	African	Sub	1322	G=0.9009	A=0.0991
1000Genomes	East Asian	Sub	1008	G=0.9960	A=0.0040
1000Genomes	Europe	Sub	1006	G=0.9364	A=0.0636
1000Genomes	South Asian	Sub	978	G=0.784	A=0.216
1000Genomes	American	Sub	694	G=0.958	A=0.042
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9346	A=0.0654
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9315	A=0.0685
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9323	A=0.0677
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=1.0000	A=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.9218	A=0.0782
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.998	A=0.002
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.899	A=0.101
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.886	A=0.114
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.919	A=0.081
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.921	A=0.079
HGDP-CEPH-db Supplement 1	America	Sub	216	G=1.000	A=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.51	A=0.49
HapMap	Global	Study-wide	1726	G=0.9079	A=0.0921
HapMap	American	Sub	770	G=0.929	A=0.071
HapMap	African	Sub	692	G=0.870	A=0.130
HapMap	Europe	Sub	176	G=0.920	A=0.080
HapMap	Asian	Sub	88	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	G=0.9117	A=0.0883
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	G=0.919	A=0.081
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.915	A=0.085
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.959	A=0.041
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.954	A=0.046
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.78	A=0.22
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.86	A=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.925	A=0.075
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.999	A=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.999	A=0.001
Chileans	Chilean	Study-wide	626	G=0.955	A=0.045
Northern Sweden	ACPOP	Study-wide	600	G=0.882	A=0.118
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.933	A=0.067
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.954	A=0.046
Qatari	Global	Study-wide	216	G=0.847	A=0.153
SGDP_PRJ	Global	Study-wide	90	G=0.40	A=0.60
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	G=0.78	A=0.23
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	A=0.10
Siberian	Global	Study-wide	8	G=0.5	A=0.5

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 12	NC_000012.12:g.53211761G>A
GRCh37.p13 chr 12	NC_000012.11:g.53605545G>A
RARG RefSeqGene	NG_029822.1:g.25496C>T

Gene: RARG, retinoic acid receptor gamma (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RARG transcript variant 1	NM_000966.6:c.1280C>T	S [TCG] > L [TTG]	Coding Sequence Variant
retinoic acid receptor gamma isoform 1	NP_000957.1:p.Ser427Leu	S (Ser) > L (Leu)	Missense Variant
RARG transcript variant 3	NM_001243732.2:c.1214C>T	S [TCG] > L [TTG]	Coding Sequence Variant
retinoic acid receptor gamma isoform 3	NP_001230661.1:p.Ser405Leu	S (Ser) > L (Leu)	Missense Variant
RARG transcript variant 5	NM_001243731.2:c.917C>T	S [TCG] > L [TTG]	Coding Sequence Variant
retinoic acid receptor gamma isoform 5	NP_001230660.1:p.Ser306Leu	S (Ser) > L (Leu)	Missense Variant
RARG transcript variant 2	NM_001042728.3:c.1247C>T	S [TCG] > L [TTG]	Coding Sequence Variant
retinoic acid receptor gamma isoform 2	NP_001036193.1:p.Ser416Leu	S (Ser) > L (Leu)	Missense Variant
RARG transcript variant 4	NM_001243730.2:c.1064C>T	S [TCG] > L [TTG]	Coding Sequence Variant
retinoic acid receptor gamma isoform 4	NP_001230659.1:p.Ser355Leu	S (Ser) > L (Leu)	Missense Variant

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

Allele: A (allele ID: 1265750 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001690475.1	not provided	Benign

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

Placement	G=	A
GRCh38.p14 chr 12	NC_000012.12:g.53211761=	NC_000012.12:g.53211761G>A
GRCh37.p13 chr 12	NC_000012.11:g.53605545=	NC_000012.11:g.53605545G>A
RARG RefSeqGene	NG_029822.1:g.25496=	NG_029822.1:g.25496C>T
RARG transcript variant 1	NM_000966.6:c.1280=	NM_000966.6:c.1280C>T
RARG transcript variant 1	NM_000966.5:c.1280=	NM_000966.5:c.1280C>T
RARG transcript variant 2	NM_001042728.3:c.1247=	NM_001042728.3:c.1247C>T
RARG transcript variant 2	NM_001042728.2:c.1247=	NM_001042728.2:c.1247C>T
RARG transcript variant 4	NM_001243730.2:c.1064=	NM_001243730.2:c.1064C>T
RARG transcript variant 4	NM_001243730.1:c.1064=	NM_001243730.1:c.1064C>T
RARG transcript variant 3	NM_001243732.2:c.1214=	NM_001243732.2:c.1214C>T
RARG transcript variant 3	NM_001243732.1:c.1214=	NM_001243732.1:c.1214C>T
RARG transcript variant 5	NM_001243731.2:c.917=	NM_001243731.2:c.917C>T
RARG transcript variant 5	NM_001243731.1:c.917=	NM_001243731.1:c.917C>T
retinoic acid receptor gamma isoform 1	NP_000957.1:p.Ser427=	NP_000957.1:p.Ser427Leu
retinoic acid receptor gamma isoform 2	NP_001036193.1:p.Ser416=	NP_001036193.1:p.Ser416Leu
retinoic acid receptor gamma isoform 4	NP_001230659.1:p.Ser355=	NP_001230659.1:p.Ser355Leu
retinoic acid receptor gamma isoform 3	NP_001230661.1:p.Ser405=	NP_001230661.1:p.Ser405Leu
retinoic acid receptor gamma isoform 5	NP_001230660.1:p.Ser306=	NP_001230660.1:p.Ser306Leu

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#.

147 SubSNP, 29 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	CGAP-GAI	ss16264486	Feb 27, 2004 (120)
2	ILLUMINA	ss66580600	Dec 02, 2006 (127)
3	ILLUMINA	ss67235570	Dec 02, 2006 (127)
4	ILLUMINA	ss67631676	Dec 02, 2006 (127)
5	PERLEGEN	ss69109450	May 18, 2007 (127)
6	ILLUMINA	ss70713908	May 27, 2008 (130)
7	ILLUMINA	ss71281598	May 18, 2007 (127)
8	SI_EXO	ss71644022	May 18, 2007 (127)
9	ILLUMINA	ss74946515	Dec 06, 2007 (129)
10	AFFY	ss76461589	Dec 06, 2007 (129)
11	ILLUMINA	ss79121729	Dec 16, 2007 (130)
12	KRIBB_YJKIM	ss84001863	Dec 16, 2007 (130)
13	CORNELL	ss86239067	Mar 23, 2008 (129)
14	CANCER-GENOME	ss86343822	Mar 23, 2008 (129)
15	1000GENOMES	ss113557552	Jan 25, 2009 (130)
16	ILLUMINA	ss121957228	Dec 01, 2009 (131)
17	ILLUMINA	ss153888203	Dec 01, 2009 (131)
18	ILLUMINA	ss159370103	Dec 01, 2009 (131)
19	SEATTLESEQ	ss159726484	Dec 01, 2009 (131)
20	ILLUMINA	ss160517480	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss169877546	Jul 04, 2010 (132)
22	ILLUMINA	ss171104557	Jul 04, 2010 (132)
23	ILLUMINA	ss173193655	Jul 04, 2010 (132)
24	1000GENOMES	ss225759246	Jul 14, 2010 (132)
25	1000GENOMES	ss235939587	Jul 15, 2010 (132)
26	ILLUMINA	ss244287999	Jul 04, 2010 (132)
27	GMI	ss286563454	Apr 25, 2013 (138)
28	NHLBI-ESP	ss342357672	May 09, 2011 (134)
29	ILLUMINA	ss480472339	May 04, 2012 (137)
30	ILLUMINA	ss480486678	May 04, 2012 (137)
31	ILLUMINA	ss481284248	Sep 08, 2015 (146)
32	ILLUMINA	ss485033644	May 04, 2012 (137)
33	1000GENOMES	ss491043477	May 04, 2012 (137)
34	EXOME_CHIP	ss491468676	May 04, 2012 (137)
35	CLINSEQ_SNP	ss491666177	May 04, 2012 (137)
36	ILLUMINA	ss533606276	Sep 08, 2015 (146)
37	TISHKOFF	ss563173186	Apr 25, 2013 (138)
38	SSMP	ss658729344	Apr 25, 2013 (138)
39	ILLUMINA	ss778699401	Sep 08, 2015 (146)
40	ILLUMINA	ss780688685	Sep 08, 2015 (146)
41	ILLUMINA	ss782963068	Sep 08, 2015 (146)
42	ILLUMINA	ss783362333	Sep 08, 2015 (146)
43	ILLUMINA	ss783925100	Sep 08, 2015 (146)
44	ILLUMINA	ss825452247	Apr 01, 2015 (144)
45	ILLUMINA	ss832219307	Sep 08, 2015 (146)
46	ILLUMINA	ss832881931	Jul 13, 2019 (153)
47	ILLUMINA	ss834158308	Sep 08, 2015 (146)
48	EVA-GONL	ss989545138	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1067534401	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1078469135	Aug 21, 2014 (142)
51	1000GENOMES	ss1345061748	Aug 21, 2014 (142)
52	HAMMER_LAB	ss1397634099	Sep 08, 2015 (146)
53	DDI	ss1426936914	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1576290831	Apr 01, 2015 (144)
55	EVA_FINRISK	ss1584082255	Apr 01, 2015 (144)
56	EVA_DECODE	ss1599217076	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1628614639	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1671608672	Apr 01, 2015 (144)
59	EVA_EXAC	ss1690931534	Apr 01, 2015 (144)
60	EVA_MGP	ss1711331547	Apr 01, 2015 (144)
61	EVA_SVP	ss1713328679	Apr 01, 2015 (144)
62	ILLUMINA	ss1752072241	Sep 08, 2015 (146)
63	ILLUMINA	ss1752072242	Sep 08, 2015 (146)
64	HAMMER_LAB	ss1807250825	Sep 08, 2015 (146)
65	ILLUMINA	ss1917874317	Feb 12, 2016 (147)
66	WEILL_CORNELL_DGM	ss1932909890	Feb 12, 2016 (147)
67	ILLUMINA	ss1946339472	Feb 12, 2016 (147)
68	ILLUMINA	ss1959436165	Feb 12, 2016 (147)
69	JJLAB	ss2027206333	Sep 14, 2016 (149)
70	ILLUMINA	ss2094873806	Dec 20, 2016 (150)
71	ILLUMINA	ss2095035016	Dec 20, 2016 (150)
72	USC_VALOUEV	ss2155544897	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2189878628	Dec 20, 2016 (150)
74	ILLUMINA	ss2632960901	Nov 08, 2017 (151)
75	GNOMAD	ss2739853337	Nov 08, 2017 (151)
76	GNOMAD	ss2748879322	Nov 08, 2017 (151)
77	GNOMAD	ss2910627581	Nov 08, 2017 (151)
78	AFFY	ss2984975944	Nov 08, 2017 (151)
79	SWEGEN	ss3009707170	Nov 08, 2017 (151)
80	ILLUMINA	ss3021432423	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3027411944	Nov 08, 2017 (151)
82	CSHL	ss3350069816	Nov 08, 2017 (151)
83	ILLUMINA	ss3626880679	Oct 12, 2018 (152)
84	ILLUMINA	ss3626880680	Oct 12, 2018 (152)
85	ILLUMINA	ss3630969968	Oct 12, 2018 (152)
86	ILLUMINA	ss3633020851	Oct 12, 2018 (152)
87	ILLUMINA	ss3633721832	Oct 12, 2018 (152)
88	ILLUMINA	ss3634505463	Oct 12, 2018 (152)
89	ILLUMINA	ss3634505464	Oct 12, 2018 (152)
90	ILLUMINA	ss3635412584	Oct 12, 2018 (152)
91	ILLUMINA	ss3636190565	Oct 12, 2018 (152)
92	ILLUMINA	ss3637163574	Oct 12, 2018 (152)
93	ILLUMINA	ss3637963924	Oct 12, 2018 (152)
94	ILLUMINA	ss3638995695	Oct 12, 2018 (152)
95	ILLUMINA	ss3639500025	Oct 12, 2018 (152)
96	ILLUMINA	ss3640212796	Oct 12, 2018 (152)
97	ILLUMINA	ss3640212797	Oct 12, 2018 (152)
98	ILLUMINA	ss3642957464	Oct 12, 2018 (152)
99	ILLUMINA	ss3644592459	Oct 12, 2018 (152)
100	OMUKHERJEE_ADBS	ss3646442974	Oct 12, 2018 (152)
101	ILLUMINA	ss3651809611	Oct 12, 2018 (152)
102	ILLUMINA	ss3651809612	Oct 12, 2018 (152)
103	ILLUMINA	ss3653749219	Oct 12, 2018 (152)
104	EGCUT_WGS	ss3676978809	Jul 13, 2019 (153)
105	EVA_DECODE	ss3693693572	Jul 13, 2019 (153)
106	ILLUMINA	ss3725326498	Jul 13, 2019 (153)
107	ACPOP	ss3739032354	Jul 13, 2019 (153)
108	ILLUMINA	ss3744396308	Jul 13, 2019 (153)
109	ILLUMINA	ss3744806140	Jul 13, 2019 (153)
110	ILLUMINA	ss3744806141	Jul 13, 2019 (153)
111	EVA	ss3750494477	Jul 13, 2019 (153)
112	PAGE_CC	ss3771692249	Jul 13, 2019 (153)
113	ILLUMINA	ss3772305596	Jul 13, 2019 (153)
114	ILLUMINA	ss3772305597	Jul 13, 2019 (153)
115	KHV_HUMAN_GENOMES	ss3815823569	Jul 13, 2019 (153)
116	EVA	ss3824734370	Apr 27, 2020 (154)
117	EVA	ss3825822338	Apr 27, 2020 (154)
118	EVA	ss3833129496	Apr 27, 2020 (154)
119	HGDP	ss3847451196	Apr 27, 2020 (154)
120	SGDP_PRJ	ss3878297449	Apr 27, 2020 (154)
121	KRGDB	ss3926932214	Apr 27, 2020 (154)
122	FSA-LAB	ss3984029424	Apr 26, 2021 (155)
123	EVA	ss3984667125	Apr 26, 2021 (155)
124	EVA	ss3985591796	Apr 26, 2021 (155)
125	EVA	ss3986571764	Apr 26, 2021 (155)
126	EVA	ss4017589523	Apr 26, 2021 (155)
127	TOPMED	ss4918671446	Apr 26, 2021 (155)
128	TOMMO_GENOMICS	ss5206373660	Apr 26, 2021 (155)
129	EVA	ss5236906060	Apr 26, 2021 (155)
130	1000G_HIGH_COVERAGE	ss5290849518	Oct 13, 2022 (156)
131	EVA	ss5405708712	Oct 13, 2022 (156)
132	HUGCELL_USP	ss5485598219	Oct 13, 2022 (156)
133	EVA	ss5512473933	Oct 13, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5588354737	Oct 13, 2022 (156)
135	EVA	ss5623957897	Oct 13, 2022 (156)
136	SANFORD_IMAGENETICS	ss5624302000	Oct 13, 2022 (156)
137	SANFORD_IMAGENETICS	ss5653176131	Oct 13, 2022 (156)
138	TOMMO_GENOMICS	ss5756181020	Oct 13, 2022 (156)
139	EVA	ss5799872627	Oct 13, 2022 (156)
140	EVA	ss5837981824	Oct 13, 2022 (156)
141	EVA	ss5847409258	Oct 13, 2022 (156)
142	EVA	ss5847670459	Oct 13, 2022 (156)
143	EVA	ss5848353669	Oct 13, 2022 (156)
144	EVA	ss5850386697	Oct 13, 2022 (156)
145	EVA	ss5904439636	Oct 13, 2022 (156)
146	EVA	ss5944539939	Oct 13, 2022 (156)
147	EVA	ss5979391762	Oct 13, 2022 (156)
148	1000Genomes	NC_000012.11 - 53605545	Oct 12, 2018 (152)
149	1000Genomes_30x	NC_000012.12 - 53211761	Oct 13, 2022 (156)
150	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 53605545	Oct 12, 2018 (152)
151	Chileans	NC_000012.11 - 53605545	Apr 27, 2020 (154)
152	Genome-wide autozygosity in Daghestan	NC_000012.10 - 51891812	Apr 27, 2020 (154)
153	Genetic variation in the Estonian population	NC_000012.11 - 53605545	Oct 12, 2018 (152)
154	ExAC	NC_000012.11 - 53605545	Oct 12, 2018 (152)
155	FINRISK	NC_000012.11 - 53605545	Apr 27, 2020 (154)
156	The Danish reference pan genome	NC_000012.11 - 53605545	Apr 27, 2020 (154)
157	gnomAD - Genomes	NC_000012.12 - 53211761	Apr 26, 2021 (155)
158	gnomAD - Exomes	NC_000012.11 - 53605545	Jul 13, 2019 (153)
159	GO Exome Sequencing Project	NC_000012.11 - 53605545	Oct 12, 2018 (152)
160	Genome of the Netherlands Release 5	NC_000012.11 - 53605545	Apr 27, 2020 (154)
161	HGDP-CEPH-db Supplement 1	NC_000012.10 - 51891812	Apr 27, 2020 (154)
162	HapMap	NC_000012.12 - 53211761	Apr 27, 2020 (154)
163	KOREAN population from KRGDB	NC_000012.11 - 53605545	Apr 27, 2020 (154)
164	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 53605545	Apr 27, 2020 (154)
165	Northern Sweden	NC_000012.11 - 53605545	Jul 13, 2019 (153)
166	The PAGE Study	NC_000012.12 - 53211761	Jul 13, 2019 (153)
167	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 53605545	Apr 26, 2021 (155)
168	CNV burdens in cranial meningiomas	NC_000012.11 - 53605545	Apr 26, 2021 (155)
169	Qatari	NC_000012.11 - 53605545	Apr 27, 2020 (154)
170	SGDP_PRJ	NC_000012.11 - 53605545	Apr 27, 2020 (154)
171	Siberian	NC_000012.11 - 53605545	Apr 27, 2020 (154)
172	8.3KJPN	NC_000012.11 - 53605545	Apr 26, 2021 (155)
173	14KJPN	NC_000012.12 - 53211761	Oct 13, 2022 (156)
174	TopMed	NC_000012.12 - 53211761	Apr 26, 2021 (155)
175	UK 10K study - Twins	NC_000012.11 - 53605545	Oct 12, 2018 (152)
176	ALFA	NC_000012.12 - 53211761	Apr 26, 2021 (155)
177	ClinVar	RCV001690475.1	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs61642612	May 27, 2008 (130)
rs116930311	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638995695, ss3639500025	NC_000012.9:51891811:G:A	NC_000012.12:53211760:G:A	(self)
105001, 129088, ss76461589, ss113557552, ss169877546, ss286563454, ss480472339, ss491666177, ss825452247, ss1397634099, ss1599217076, ss1713328679, ss2094873806, ss3642957464, ss3847451196	NC_000012.10:51891811:G:A	NC_000012.12:53211760:G:A	(self)
57812209, 32101181, 99544, 22717057, 1230468, 78716, 2968456, 9084641, 1191839, 14324701, 34109608, 447307, 12317219, 817723, 216618, 14951820, 30314429, 8061251, 64342967, 32101181, ss225759246, ss235939587, ss342357672, ss480486678, ss481284248, ss485033644, ss491043477, ss491468676, ss533606276, ss563173186, ss658729344, ss778699401, ss780688685, ss782963068, ss783362333, ss783925100, ss832219307, ss832881931, ss834158308, ss989545138, ss1067534401, ss1078469135, ss1345061748, ss1426936914, ss1576290831, ss1584082255, ss1628614639, ss1671608672, ss1690931534, ss1711331547, ss1752072241, ss1752072242, ss1807250825, ss1917874317, ss1932909890, ss1946339472, ss1959436165, ss2027206333, ss2095035016, ss2155544897, ss2632960901, ss2739853337, ss2748879322, ss2910627581, ss2984975944, ss3009707170, ss3021432423, ss3350069816, ss3626880679, ss3626880680, ss3630969968, ss3633020851, ss3633721832, ss3634505463, ss3634505464, ss3635412584, ss3636190565, ss3637163574, ss3637963924, ss3640212796, ss3640212797, ss3644592459, ss3646442974, ss3651809611, ss3651809612, ss3653749219, ss3676978809, ss3739032354, ss3744396308, ss3744806140, ss3744806141, ss3750494477, ss3772305596, ss3772305597, ss3824734370, ss3825822338, ss3833129496, ss3878297449, ss3926932214, ss3984029424, ss3984667125, ss3985591796, ss3986571764, ss4017589523, ss5206373660, ss5405708712, ss5512473933, ss5623957897, ss5624302000, ss5653176131, ss5799872627, ss5837981824, ss5847409258, ss5847670459, ss5848353669, ss5944539939, ss5979391762	NC_000012.11:53605544:G:A	NC_000012.12:53211760:G:A	(self)
RCV001690475.1, 75880672, 407659604, 818852, 913718, 90018124, 134217103, 10776010328, ss2189878628, ss3027411944, ss3693693572, ss3725326498, ss3771692249, ss3815823569, ss4918671446, ss5236906060, ss5290849518, ss5485598219, ss5588354737, ss5756181020, ss5850386697, ss5904439636	NC_000012.12:53211760:G:A	NC_000012.12:53211760:G:A	(self)
ss16264486, ss66580600, ss67235570, ss67631676, ss69109450, ss70713908, ss71281598, ss71644022, ss74946515, ss79121729, ss84001863, ss86239067, ss86343822, ss121957228, ss153888203, ss159370103, ss159726484, ss160517480, ss171104557, ss173193655, ss244287999	NT_029419.12:15748850:G:A	NC_000012.12:53211760:G:A	(self)

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

11 citations for rs2229774

PMID	Title	Author	Year	Journal
21254357	Association of retinoic acid receptor genes with meningomyelocele.	Tran PX et al.	2011	Birth defects research. Part A, Clinical and molecular teratology
26237429	A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer.	Aminkeng F et al.	2015	Nature genetics
27197003	Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity.	Aminkeng F et al.	2016	British journal of clinical pharmacology
28763429	Genome-wide association study of cardiotoxicity in the NCCTG N9831 (Alliance) adjuvant trastuzumab trial.	Serie DJ et al.	2017	Pharmacogenetics and genomics
29557343	Chemotherapy-Related Cardiac Dysfunction: A Systematic Review of Genetic Variants Modulating Individual Risk.	Linschoten M et al.	2018	Circulation. Genomic and precision medicine
29713898	Pharmacogenetics of Chemotherapy-Induced Cardiotoxicity.	Chang VY et al.	2018	Current oncology reports
32197774	Current and coming challenges in the management of the survivorship population.	Chow EJ et al.	2020	Seminars in oncology
32587261	Variation in RARG increases susceptibility to doxorubicin-induced cardiotoxicity in patient specific induced pluripotent stem cell-derived cardiomyocytes.	Christidi E et al.	2020	Scientific reports
34525346	RARG variant predictive of doxorubicin-induced cardiotoxicity identifies a cardioprotective therapy.	Magdy T et al.	2021	Cell stem cell
35147047	Pharmacogenomic study of anthracycline-induced cardiotoxicity in Mexican pediatric patients.	Vargas-Neri JL et al.	2022	Pharmacogenomics
35364012	RARG S427L attenuates the DNA repair response to doxorubicin in induced pluripotent stem cell-derived cardiomyocytes.	Huang H et al.	2022	Stem cell reports

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2229774