Name: rs2074533
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.

rs2074533

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:47740912 (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: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.471348 (124761/264690, TOPMED)
T=0.478152 (118380/247578, GnomAD_exome)
T=0.447666 (110107/245958, ALFA) (+ 23 more)
T=0.462395 (64775/140086, GnomAD)
T=0.474224 (56904/119994, ExAC)
C=0.49221 (38735/78696, PAGE_STUDY)
C=0.47565 (13439/28254, 14KJPN)
C=0.47732 (7998/16756, 8.3KJPN)
T=0.45610 (5932/13006, GO-ESP)
T=0.4889 (3131/6404, 1000G_30x)
T=0.4904 (2456/5008, 1000G)
T=0.4705 (2108/4480, Estonian)
T=0.4328 (1668/3854, ALSPAC)
T=0.4450 (1650/3708, TWINSUK)
C=0.4655 (1363/2928, KOREAN)
C=0.4733 (867/1832, Korea1K)
T=0.472 (471/998, GoNL)
C=0.481 (381/792, PRJEB37584)
C=0.415 (253/610, Vietnamese)
T=0.457 (274/600, NorthernSweden)
C=0.442 (236/534, MGP)
T=0.298 (117/392, SGDP_PRJ)
T=0.456 (136/298, FINRISK)
T=0.333 (72/216, Qatari)
T=0.30 (13/44, Siberian)
C=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RPAP3-DT : Non Coding Transcript Variant
RAPGEF3 : Intron Variant
Publications: 2 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	262392	T=0.448249	C=0.551751
European	Sub	214940	T=0.439234	C=0.560766
African	Sub	12012	T=0.47178	C=0.52822
African Others	Sub	436	T=0.500	C=0.500
African American	Sub	11576	T=0.47072	C=0.52928
Asian	Sub	6616	T=0.5432	C=0.4568
East Asian	Sub	4740	T=0.5283	C=0.4717
Other Asian	Sub	1876	T=0.5810	C=0.4190
Latin American 1	Sub	1246	T=0.4382	C=0.5618
Latin American 2	Sub	5350	T=0.6273	C=0.3727
South Asian	Sub	360	T=0.481	C=0.519
Other	Sub	21868	T=0.45144	C=0.54856

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	T=0.471348	C=0.528652
gnomAD - Exomes	Global	Study-wide	247578	T=0.478152	C=0.521848
gnomAD - Exomes	European	Sub	131956	T=0.440942	C=0.559058
gnomAD - Exomes	Asian	Sub	48890	T=0.48249	C=0.51751
gnomAD - Exomes	American	Sub	34466	T=0.65070	C=0.34930
gnomAD - Exomes	African	Sub	16136	T=0.48035	C=0.51965
gnomAD - Exomes	Ashkenazi Jewish	Sub	10036	T=0.37595	C=0.62405
gnomAD - Exomes	Other	Sub	6094	T=0.4357	C=0.5643
Allele Frequency Aggregator	Total	Global	245958	T=0.447666	C=0.552334
Allele Frequency Aggregator	European	Sub	204786	T=0.438760	C=0.561240
Allele Frequency Aggregator	Other	Sub	20424	T=0.45099	C=0.54901
Allele Frequency Aggregator	African	Sub	7176	T=0.4703	C=0.5297
Allele Frequency Aggregator	Asian	Sub	6616	T=0.5432	C=0.4568
Allele Frequency Aggregator	Latin American 2	Sub	5350	T=0.6273	C=0.3727
Allele Frequency Aggregator	Latin American 1	Sub	1246	T=0.4382	C=0.5618
Allele Frequency Aggregator	South Asian	Sub	360	T=0.481	C=0.519
gnomAD - Genomes	Global	Study-wide	140086	T=0.462395	C=0.537605
gnomAD - Genomes	European	Sub	75868	T=0.44264	C=0.55736
gnomAD - Genomes	African	Sub	41962	T=0.48172	C=0.51828
gnomAD - Genomes	American	Sub	13656	T=0.51289	C=0.48711
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.3838	C=0.6162
gnomAD - Genomes	East Asian	Sub	3124	T=0.5535	C=0.4465
gnomAD - Genomes	Other	Sub	2154	T=0.4508	C=0.5492
ExAC	Global	Study-wide	119994	T=0.474224	C=0.525776
ExAC	Europe	Sub	72348	T=0.44188	C=0.55812
ExAC	Asian	Sub	25028	T=0.47838	C=0.52162
ExAC	American	Sub	11456	T=0.66742	C=0.33258
ExAC	African	Sub	10274	T=0.48044	C=0.51956
ExAC	Other	Sub	888	T=0.428	C=0.572
The PAGE Study	Global	Study-wide	78696	T=0.50779	C=0.49221
The PAGE Study	AfricanAmerican	Sub	32512	T=0.47933	C=0.52067
The PAGE Study	Mexican	Sub	10810	T=0.61175	C=0.38825
The PAGE Study	Asian	Sub	8316	T=0.5378	C=0.4622
The PAGE Study	PuertoRican	Sub	7918	T=0.4433	C=0.5567
The PAGE Study	NativeHawaiian	Sub	4534	T=0.5463	C=0.4537
The PAGE Study	Cuban	Sub	4230	T=0.4173	C=0.5827
The PAGE Study	Dominican	Sub	3828	T=0.4553	C=0.5447
The PAGE Study	CentralAmerican	Sub	2450	T=0.6078	C=0.3922
The PAGE Study	SouthAmerican	Sub	1982	T=0.6216	C=0.3784
The PAGE Study	NativeAmerican	Sub	1260	T=0.5357	C=0.4643
The PAGE Study	SouthAsian	Sub	856	T=0.468	C=0.532
14KJPN	JAPANESE	Study-wide	28254	T=0.52435	C=0.47565
8.3KJPN	JAPANESE	Study-wide	16756	T=0.52268	C=0.47732
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.45610	C=0.54390
GO Exome Sequencing Project	European American	Sub	8600	T=0.4397	C=0.5603
GO Exome Sequencing Project	African American	Sub	4406	T=0.4882	C=0.5118
1000Genomes_30x	Global	Study-wide	6404	T=0.4889	C=0.5111
1000Genomes_30x	African	Sub	1786	T=0.4838	C=0.5162
1000Genomes_30x	Europe	Sub	1266	T=0.4202	C=0.5798
1000Genomes_30x	South Asian	Sub	1202	T=0.4634	C=0.5366
1000Genomes_30x	East Asian	Sub	1170	T=0.5521	C=0.4479
1000Genomes_30x	American	Sub	980	T=0.543	C=0.457
1000Genomes	Global	Study-wide	5008	T=0.4904	C=0.5096
1000Genomes	African	Sub	1322	T=0.4887	C=0.5113
1000Genomes	East Asian	Sub	1008	T=0.5476	C=0.4524
1000Genomes	Europe	Sub	1006	T=0.4254	C=0.5746
1000Genomes	South Asian	Sub	978	T=0.462	C=0.538
1000Genomes	American	Sub	694	T=0.545	C=0.455
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4705	C=0.5295
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4328	C=0.5672
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4450	C=0.5550
KOREAN population from KRGDB	KOREAN	Study-wide	2928	T=0.5345	A=0.0000, C=0.4655
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5267	C=0.4733
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.472	C=0.528
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.519	C=0.481
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.519	C=0.481
A Vietnamese Genetic Variation Database	Global	Study-wide	610	T=0.585	C=0.415
Northern Sweden	ACPOP	Study-wide	600	T=0.457	C=0.543
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.558	C=0.442
SGDP_PRJ	Global	Study-wide	392	T=0.298	C=0.702
FINRISK	Finnish from FINRISK project	Study-wide	298	T=0.456	C=0.544
Qatari	Global	Study-wide	216	T=0.333	C=0.667
Siberian	Global	Study-wide	44	T=0.30	C=0.70
The Danish reference pan genome	Danish	Study-wide	40	T=0.53	C=0.47

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.47740912T>A
GRCh38.p14 chr 12	NC_000012.12:g.47740912T>C
GRCh37.p13 chr 12	NC_000012.11:g.48134695T>A
GRCh37.p13 chr 12	NC_000012.11:g.48134695T>C

Gene: RAPGEF3, Rap guanine nucleotide exchange factor 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAPGEF3 transcript variant 1	NM_001098531.4:c.2049+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant 3	NM_001098532.2:c.1923+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant 2	NM_006105.5:c.1923+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X7	XM_005268571.4:c.765+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X1	XM_011537752.3:c.2094+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X2	XM_011537755.2:c.1968+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X4	XM_011537758.3:c.1617+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X3	XM_047428081.1:c.2094+3A>T	N/A	Intron Variant
RAPGEF3 transcript variant X6	XM_017018688.3:c.	N/A	Genic Downstream Transcript Variant
RAPGEF3 transcript variant X5	XR_001748551.3:n.	N/A	Genic Downstream Transcript Variant

Gene: RPAP3-DT, uncharacterized RPAP3-DT (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RPAP3-DT transcript variant X6	XR_944900.3:n.1837T>A	N/A	Non Coding Transcript Variant
RPAP3-DT transcript variant X6	XR_944900.3:n.1837T>C	N/A	Non Coding Transcript Variant
RPAP3-DT transcript variant X2	XR_001749110.3:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X5	XR_001749111.2:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X4	XR_001749112.2:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X3	XR_007063289.1:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X1	XR_944898.3:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X7	XR_944901.3:n.	N/A	Genic Downstream Transcript Variant
RPAP3-DT transcript variant X8	XR_944902.4:n.	N/A	Genic Downstream 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	T=	A	C
GRCh38.p14 chr 12	NC_000012.12:g.47740912=	NC_000012.12:g.47740912T>A	NC_000012.12:g.47740912T>C
GRCh37.p13 chr 12	NC_000012.11:g.48134695=	NC_000012.11:g.48134695T>A	NC_000012.11:g.48134695T>C
RPAP3-DT transcript variant X6	XR_944900.3:n.1837=	XR_944900.3:n.1837T>A	XR_944900.3:n.1837T>C
RAPGEF3 transcript variant 1	NM_001098531.2:c.2049+3=	NM_001098531.2:c.2049+3A>T	NM_001098531.2:c.2049+3A>G
RAPGEF3 transcript variant 1	NM_001098531.4:c.2049+3=	NM_001098531.4:c.2049+3A>T	NM_001098531.4:c.2049+3A>G
RAPGEF3 transcript variant 3	NM_001098532.2:c.1923+3=	NM_001098532.2:c.1923+3A>T	NM_001098532.2:c.1923+3A>G
RAPGEF3 transcript variant 2	NM_006105.5:c.1923+3=	NM_006105.5:c.1923+3A>T	NM_006105.5:c.1923+3A>G
RAPGEF3 transcript variant X1	XM_005268568.1:c.1938+3=	XM_005268568.1:c.1938+3A>T	XM_005268568.1:c.1938+3A>G
RAPGEF3 transcript variant X2	XM_005268569.1:c.1617+3=	XM_005268569.1:c.1617+3A>T	XM_005268569.1:c.1617+3A>G
RAPGEF3 transcript variant X3	XM_005268570.1:c.1617+3=	XM_005268570.1:c.1617+3A>T	XM_005268570.1:c.1617+3A>G
RAPGEF3 transcript variant X4	XM_005268571.1:c.765+3=	XM_005268571.1:c.765+3A>T	XM_005268571.1:c.765+3A>G
RAPGEF3 transcript variant X7	XM_005268571.4:c.765+3=	XM_005268571.4:c.765+3A>T	XM_005268571.4:c.765+3A>G
RAPGEF3 transcript variant X1	XM_011537752.3:c.2094+3=	XM_011537752.3:c.2094+3A>T	XM_011537752.3:c.2094+3A>G
RAPGEF3 transcript variant X2	XM_011537755.2:c.1968+3=	XM_011537755.2:c.1968+3A>T	XM_011537755.2:c.1968+3A>G
RAPGEF3 transcript variant X4	XM_011537758.3:c.1617+3=	XM_011537758.3:c.1617+3A>T	XM_011537758.3:c.1617+3A>G
RAPGEF3 transcript variant X3	XM_047428081.1:c.2094+3=	XM_047428081.1:c.2094+3A>T	XM_047428081.1:c.2094+3A>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#.

133 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss2989227	Jun 15, 2001 (96)
2	HGBASE	ss3183416	Aug 15, 2001 (98)
3	WI_SSAHASNP	ss12203841	Jul 11, 2003 (116)
4	SC_SNP	ss16168743	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19235504	Feb 27, 2004 (120)
6	SSAHASNP	ss20874026	Apr 05, 2004 (121)
7	ABI	ss38951545	Mar 13, 2006 (126)
8	BCMHGSC_JDW	ss89137481	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss97227426	Feb 04, 2009 (130)
10	BGI	ss106804886	Feb 04, 2009 (130)
11	1000GENOMES	ss111906883	Jan 25, 2009 (130)
12	1000GENOMES	ss113508015	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss118786291	Feb 14, 2009 (130)
14	ENSEMBL	ss137446379	Dec 01, 2009 (131)
15	ILLUMINA	ss160498921	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss168257500	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss169771254	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss175117489	Jul 04, 2010 (132)
19	BUSHMAN	ss198139270	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss208373174	Jul 04, 2010 (132)
21	1000GENOMES	ss225741418	Jul 14, 2010 (132)
22	1000GENOMES	ss235926538	Jul 15, 2010 (132)
23	1000GENOMES	ss242487821	Jul 15, 2010 (132)
24	BL	ss255096577	May 09, 2011 (134)
25	GMI	ss281387533	May 04, 2012 (137)
26	GMI	ss286557473	Apr 25, 2013 (138)
27	PJP	ss291245550	May 09, 2011 (134)
28	ILLUMINA	ss479904562	May 04, 2012 (137)
29	ILLUMINA	ss481210344	Sep 08, 2015 (146)
30	ILLUMINA	ss483071778	May 04, 2012 (137)
31	1000GENOMES	ss491040600	May 04, 2012 (137)
32	EXOME_CHIP	ss491466821	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491663866	May 04, 2012 (137)
34	ILLUMINA	ss533380060	Sep 08, 2015 (146)
35	TISHKOFF	ss563151401	Apr 25, 2013 (138)
36	SSMP	ss658704213	Apr 25, 2013 (138)
37	NHLBI-ESP	ss713090162	Apr 25, 2013 (138)
38	ILLUMINA	ss779673809	Sep 08, 2015 (146)
39	ILLUMINA	ss780801660	Sep 08, 2015 (146)
40	ILLUMINA	ss781097785	Sep 08, 2015 (146)
41	ILLUMINA	ss783483075	Sep 08, 2015 (146)
42	ILLUMINA	ss835147352	Sep 08, 2015 (146)
43	EVA-GONL	ss989507557	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1067533177	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1078443795	Aug 21, 2014 (142)
46	1000GENOMES	ss1344910912	Aug 21, 2014 (142)
47	DDI	ss1426926490	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1576268001	Apr 01, 2015 (144)
49	EVA_FINRISK	ss1584081408	Apr 01, 2015 (144)
50	EVA_DECODE	ss1599177918	Apr 01, 2015 (144)
51	EVA_UK10K_ALSPAC	ss1628538516	Apr 01, 2015 (144)
52	EVA_UK10K_TWINSUK	ss1671532549	Apr 01, 2015 (144)
53	EVA_EXAC	ss1690870850	Apr 01, 2015 (144)
54	EVA_MGP	ss1711327927	Apr 01, 2015 (144)
55	ILLUMINA	ss1752069044	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1807233907	Sep 08, 2015 (146)
57	ILLUMINA	ss1917872886	Feb 12, 2016 (147)
58	WEILL_CORNELL_DGM	ss1932872081	Feb 12, 2016 (147)
59	ILLUMINA	ss1946337453	Feb 12, 2016 (147)
60	ILLUMINA	ss1959431784	Feb 12, 2016 (147)
61	GENOMED	ss1967585260	Jul 19, 2016 (147)
62	JJLAB	ss2027187395	Sep 14, 2016 (149)
63	USC_VALOUEV	ss2155522911	Dec 20, 2016 (150)
64	HUMAN_LONGEVITY	ss2189569099	Dec 20, 2016 (150)
65	SYSTEMSBIOZJU	ss2628073595	Nov 08, 2017 (151)
66	ILLUMINA	ss2632956042	Nov 08, 2017 (151)
67	GRF	ss2699865784	Nov 08, 2017 (151)
68	GNOMAD	ss2739759021	Nov 08, 2017 (151)
69	GNOMAD	ss2748851295	Nov 08, 2017 (151)
70	GNOMAD	ss2910192527	Nov 08, 2017 (151)
71	AFFY	ss2984973625	Nov 08, 2017 (151)
72	SWEGEN	ss3009642865	Nov 08, 2017 (151)
73	ILLUMINA	ss3021427452	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3027401908	Nov 08, 2017 (151)
75	CSHL	ss3350052717	Nov 08, 2017 (151)
76	ILLUMINA	ss3626870613	Oct 12, 2018 (152)
77	ILLUMINA	ss3626870614	Oct 12, 2018 (152)
78	ILLUMINA	ss3630965428	Oct 12, 2018 (152)
79	ILLUMINA	ss3634502560	Oct 12, 2018 (152)
80	ILLUMINA	ss3636188276	Oct 12, 2018 (152)
81	ILLUMINA	ss3640209893	Oct 12, 2018 (152)
82	ILLUMINA	ss3641788442	Oct 12, 2018 (152)
83	ILLUMINA	ss3644590444	Oct 12, 2018 (152)
84	OMUKHERJEE_ADBS	ss3646441334	Oct 12, 2018 (152)
85	URBANLAB	ss3649832887	Oct 12, 2018 (152)
86	ILLUMINA	ss3651803902	Oct 12, 2018 (152)
87	ILLUMINA	ss3653746761	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3676919257	Jul 13, 2019 (153)
89	EVA_DECODE	ss3693618188	Jul 13, 2019 (153)
90	ILLUMINA	ss3725322075	Jul 13, 2019 (153)
91	ACPOP	ss3738999239	Jul 13, 2019 (153)
92	ILLUMINA	ss3744394786	Jul 13, 2019 (153)
93	ILLUMINA	ss3744803250	Jul 13, 2019 (153)
94	EVA	ss3750448743	Jul 13, 2019 (153)
95	PAGE_CC	ss3771688623	Jul 13, 2019 (153)
96	ILLUMINA	ss3772302741	Jul 13, 2019 (153)
97	PACBIO	ss3787218695	Jul 13, 2019 (153)
98	PACBIO	ss3792321842	Jul 13, 2019 (153)
99	PACBIO	ss3797204613	Jul 13, 2019 (153)
100	KHV_HUMAN_GENOMES	ss3815779090	Jul 13, 2019 (153)
101	EVA	ss3824721552	Apr 27, 2020 (154)
102	EVA	ss3825819984	Apr 27, 2020 (154)
103	EVA	ss3833109831	Apr 27, 2020 (154)
104	SGDP_PRJ	ss3878220675	Apr 27, 2020 (154)
105	KRGDB	ss3926837992	Apr 27, 2020 (154)
106	KOGIC	ss3971871921	Apr 27, 2020 (154)
107	FSA-LAB	ss3984026571	Apr 26, 2021 (155)
108	EVA	ss3984666326	Apr 26, 2021 (155)
109	EVA	ss3986566997	Apr 26, 2021 (155)
110	TOPMED	ss4917367365	Apr 26, 2021 (155)
111	EVA	ss5141969128	Apr 26, 2021 (155)
112	TOMMO_GENOMICS	ss5206191825	Apr 26, 2021 (155)
113	EVA	ss5237219805	Apr 26, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5290714535	Oct 16, 2022 (156)
115	EVA	ss5315618893	Oct 16, 2022 (156)
116	EVA	ss5405467004	Oct 16, 2022 (156)
117	HUGCELL_USP	ss5485479473	Oct 16, 2022 (156)
118	EVA	ss5510695863	Oct 16, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5588157370	Oct 16, 2022 (156)
120	EVA	ss5623957390	Oct 16, 2022 (156)
121	EVA	ss5624031946	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5653102345	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5755940239	Oct 16, 2022 (156)
124	EVA	ss5800176695	Oct 16, 2022 (156)
125	YY_MCH	ss5813275941	Oct 16, 2022 (156)
126	EVA	ss5837931151	Oct 16, 2022 (156)
127	EVA	ss5847667923	Oct 16, 2022 (156)
128	EVA	ss5848350782	Oct 16, 2022 (156)
129	EVA	ss5850370727	Oct 16, 2022 (156)
130	EVA	ss5904287439	Oct 16, 2022 (156)
131	EVA	ss5936552922	Oct 16, 2022 (156)
132	EVA	ss5944465552	Oct 16, 2022 (156)
133	EVA	ss5980737075	Oct 16, 2022 (156)
134	1000Genomes	NC_000012.11 - 48134695	Oct 12, 2018 (152)
135	1000Genomes_30x	NC_000012.12 - 47740912	Oct 16, 2022 (156)
136	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 48134695	Oct 12, 2018 (152)
137	Genetic variation in the Estonian population	NC_000012.11 - 48134695	Oct 12, 2018 (152)
138	ExAC	NC_000012.11 - 48134695	Oct 12, 2018 (152)
139	FINRISK	NC_000012.11 - 48134695	Apr 27, 2020 (154)
140	The Danish reference pan genome	NC_000012.11 - 48134695	Apr 27, 2020 (154)
141	gnomAD - Genomes	NC_000012.12 - 47740912	Apr 26, 2021 (155)
142	gnomAD - Exomes	NC_000012.11 - 48134695	Jul 13, 2019 (153)
143	GO Exome Sequencing Project	NC_000012.11 - 48134695	Oct 12, 2018 (152)
144	Genome of the Netherlands Release 5	NC_000012.11 - 48134695	Apr 27, 2020 (154)
145	KOREAN population from KRGDB	NC_000012.11 - 48134695	Apr 27, 2020 (154)
146	Korean Genome Project	NC_000012.12 - 47740912	Apr 27, 2020 (154)
147	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 48134695	Apr 27, 2020 (154)
148	Northern Sweden	NC_000012.11 - 48134695	Jul 13, 2019 (153)
149	The PAGE Study	NC_000012.12 - 47740912	Jul 13, 2019 (153)
150	CNV burdens in cranial meningiomas	NC_000012.11 - 48134695	Apr 26, 2021 (155)
151	Qatari	NC_000012.11 - 48134695	Apr 27, 2020 (154)
152	SGDP_PRJ	NC_000012.11 - 48134695	Apr 27, 2020 (154)
153	Siberian	NC_000012.11 - 48134695	Apr 27, 2020 (154)
154	8.3KJPN	NC_000012.11 - 48134695	Apr 26, 2021 (155)
155	14KJPN	NC_000012.12 - 47740912	Oct 16, 2022 (156)
156	TopMed	NC_000012.12 - 47740912	Apr 26, 2021 (155)
157	UK 10K study - Twins	NC_000012.11 - 48134695	Oct 12, 2018 (152)
158	A Vietnamese Genetic Variation Database	NC_000012.11 - 48134695	Jul 13, 2019 (153)
159	ALFA	NC_000012.12 - 47740912	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
34015386, ss3926837992	NC_000012.11:48134694:T:A	NC_000012.12:47740911:T:A	(self)
ss89137481, ss111906883, ss113508015, ss118786291, ss168257500, ss169771254, ss175117489, ss198139270, ss208373174, ss255096577, ss281387533, ss286557473, ss291245550, ss483071778, ss491663866, ss1599177918	NC_000012.10:46420961:T:C	NC_000012.12:47740911:T:C	(self)
57655858, 32016711, 22657505, 1165565, 77869, 2954050, 8988286, 1179034, 14288892, 34015386, 443687, 12284104, 215819, 14914011, 30237655, 8039265, 64161132, 32016711, 7108969, ss225741418, ss235926538, ss242487821, ss479904562, ss481210344, ss491040600, ss491466821, ss533380060, ss563151401, ss658704213, ss713090162, ss779673809, ss780801660, ss781097785, ss783483075, ss835147352, ss989507557, ss1067533177, ss1078443795, ss1344910912, ss1426926490, ss1576268001, ss1584081408, ss1628538516, ss1671532549, ss1690870850, ss1711327927, ss1752069044, ss1807233907, ss1917872886, ss1932872081, ss1946337453, ss1959431784, ss1967585260, ss2027187395, ss2155522911, ss2628073595, ss2632956042, ss2699865784, ss2739759021, ss2748851295, ss2910192527, ss2984973625, ss3009642865, ss3021427452, ss3350052717, ss3626870613, ss3626870614, ss3630965428, ss3634502560, ss3636188276, ss3640209893, ss3641788442, ss3644590444, ss3646441334, ss3651803902, ss3653746761, ss3676919257, ss3738999239, ss3744394786, ss3744803250, ss3750448743, ss3772302741, ss3787218695, ss3792321842, ss3797204613, ss3824721552, ss3825819984, ss3833109831, ss3878220675, ss3926837992, ss3984026571, ss3984666326, ss3986566997, ss5206191825, ss5315618893, ss5405467004, ss5510695863, ss5623957390, ss5624031946, ss5653102345, ss5800176695, ss5837931151, ss5847667923, ss5848350782, ss5936552922, ss5944465552, ss5980737075	NC_000012.11:48134694:T:C	NC_000012.12:47740911:T:C	(self)
75683305, 406548471, 28249922, 910092, 89777343, 132913022, 8101128539, ss2189569099, ss3027401908, ss3649832887, ss3693618188, ss3725322075, ss3771688623, ss3815779090, ss3971871921, ss4917367365, ss5141969128, ss5237219805, ss5290714535, ss5485479473, ss5588157370, ss5755940239, ss5813275941, ss5850370727, ss5904287439	NC_000012.12:47740911:T:C	NC_000012.12:47740911:T:C	(self)
ss12203841, ss16168743, ss19235504, ss20874026	NT_029419.10:10278000:T:C	NC_000012.12:47740911:T:C	(self)
ss2989227, ss3183416, ss38951545, ss97227426, ss106804886, ss137446379, ss160498921	NT_029419.12:10278000:T:C	NC_000012.12:47740911:T:C	(self)

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

2 citations for rs2074533

PMID	Title	Author	Year	Journal
19475578	An association between Epac-1 gene variants and anxiety and depression in two independent samples.	Middeldorp CM et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
27598965	Anxiety and depression with neurogenesis defects in exchange protein directly activated by cAMP 2-deficient mice are ameliorated by a selective serotonin reuptake inhibitor, Prozac.	Zhou L et al.	2016	Translational psychiatry

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2074533