Name: rs761422
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.

rs761422

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:16975285 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.472963 (129290/273362, ALFA)
G=0.461321 (122107/264690, TOPMED)
G=0.445528 (111373/249980, GnomAD_exome) (+ 25 more)
G=0.458595 (64174/139936, GnomAD)
G=0.442653 (53453/120756, ExAC)
G=0.44248 (34339/77606, PAGE_STUDY)
G=0.30263 (8550/28252, 14KJPN)
G=0.29998 (5027/16758, 8.3KJPN)
G=0.46563 (6056/13006, GO-ESP)
G=0.4235 (2712/6404, 1000G_30x)
G=0.4153 (2080/5008, 1000G)
G=0.4355 (1951/4480, Estonian)
G=0.4850 (1869/3854, ALSPAC)
G=0.4911 (1821/3708, TWINSUK)
G=0.3043 (891/2928, KOREAN)
G=0.3040 (557/1832, Korea1K)
G=0.4169 (747/1792, HapMap)
A=0.491 (490/998, GoNL)
G=0.289 (218/754, PRJEB37584)
G=0.360 (216/600, NorthernSweden)
G=0.285 (152/534, MGP)
A=0.367 (127/346, SGDP_PRJ)
G=0.407 (122/300, FINRISK)
G=0.407 (88/216, Qatari)
G=0.195 (41/210, Vietnamese)
G=0.31 (20/64, Ancient Sardinia)
A=0.40 (17/42, Siberian)
G=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MFAP2 : Missense Variant
LOC105376806 : 2KB Upstream 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	294726	A=0.527181	G=0.472819, T=0.000000
European	Sub	251268	A=0.522816	G=0.477184, T=0.000000
African	Sub	14198	A=0.54698	G=0.45302, T=0.00000
African Others	Sub	518	A=0.562	G=0.438, T=0.000
African American	Sub	13680	A=0.54642	G=0.45358, T=0.00000
Asian	Sub	3856	A=0.7272	G=0.2728, T=0.0000
East Asian	Sub	3096	A=0.7112	G=0.2888, T=0.0000
Other Asian	Sub	760	A=0.792	G=0.208, T=0.000
Latin American 1	Sub	1396	A=0.5193	G=0.4807, T=0.0000
Latin American 2	Sub	6528	A=0.4956	G=0.5044, T=0.0000
South Asian	Sub	366	A=0.609	G=0.391, T=0.000
Other	Sub	17114	A=0.54073	G=0.45927, T=0.00000

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	273362	A=0.527037	G=0.472963, T=0.000000
Allele Frequency Aggregator	European	Sub	238114	A=0.522708	G=0.477292, T=0.000000
Allele Frequency Aggregator	Other	Sub	14884	A=0.54327	G=0.45673, T=0.00000
Allele Frequency Aggregator	African	Sub	8218	A=0.5518	G=0.4482, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6528	A=0.4956	G=0.5044, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3856	A=0.7272	G=0.2728, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1396	A=0.5193	G=0.4807, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	366	A=0.609	G=0.391, T=0.000
TopMed	Global	Study-wide	264690	A=0.538679	G=0.461321
gnomAD - Exomes	Global	Study-wide	249980	A=0.554472	G=0.445528
gnomAD - Exomes	European	Sub	134428	A=0.541442	G=0.458558
gnomAD - Exomes	Asian	Sub	48840	A=0.62543	G=0.37457
gnomAD - Exomes	American	Sub	34408	A=0.51540	G=0.48460
gnomAD - Exomes	African	Sub	16220	A=0.54692	G=0.45308
gnomAD - Exomes	Ashkenazi Jewish	Sub	9990	A=0.5267	G=0.4733
gnomAD - Exomes	Other	Sub	6094	A=0.5594	G=0.4406
gnomAD - Genomes	Global	Study-wide	139936	A=0.541405	G=0.458595
gnomAD - Genomes	European	Sub	75820	A=0.53171	G=0.46829
gnomAD - Genomes	African	Sub	41900	A=0.54535	G=0.45465
gnomAD - Genomes	American	Sub	13622	A=0.53972	G=0.46028
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.5217	G=0.4783
gnomAD - Genomes	East Asian	Sub	3128	A=0.7465	G=0.2535
gnomAD - Genomes	Other	Sub	2146	A=0.5494	G=0.4506
ExAC	Global	Study-wide	120756	A=0.557347	G=0.442653
ExAC	Europe	Sub	72906	A=0.54303	G=0.45697
ExAC	Asian	Sub	25052	A=0.62167	G=0.37833
ExAC	American	Sub	11534	A=0.52029	G=0.47971
ExAC	African	Sub	10372	A=0.54425	G=0.45575
ExAC	Other	Sub	892	A=0.553	G=0.447
The PAGE Study	Global	Study-wide	77606	A=0.55752	G=0.44248
The PAGE Study	AfricanAmerican	Sub	32084	A=0.54055	G=0.45945
The PAGE Study	Mexican	Sub	10662	A=0.51079	G=0.48921
The PAGE Study	Asian	Sub	8200	A=0.7277	G=0.2723
The PAGE Study	PuertoRican	Sub	7802	A=0.5428	G=0.4572
The PAGE Study	NativeHawaiian	Sub	4480	A=0.5848	G=0.4152
The PAGE Study	Cuban	Sub	4168	A=0.5413	G=0.4587
The PAGE Study	Dominican	Sub	3764	A=0.5215	G=0.4785
The PAGE Study	CentralAmerican	Sub	2406	A=0.5258	G=0.4742
The PAGE Study	SouthAmerican	Sub	1958	A=0.5215	G=0.4785
The PAGE Study	NativeAmerican	Sub	1236	A=0.5186	G=0.4814
The PAGE Study	SouthAsian	Sub	846	A=0.603	G=0.397
14KJPN	JAPANESE	Study-wide	28252	A=0.69737	G=0.30263
8.3KJPN	JAPANESE	Study-wide	16758	A=0.70002	G=0.29998
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.53437	G=0.46563
GO Exome Sequencing Project	European American	Sub	8600	A=0.5260	G=0.4740
GO Exome Sequencing Project	African American	Sub	4406	A=0.5506	G=0.4494
1000Genomes_30x	Global	Study-wide	6404	A=0.5765	G=0.4235
1000Genomes_30x	African	Sub	1786	A=0.5207	G=0.4793
1000Genomes_30x	Europe	Sub	1266	A=0.5000	G=0.5000
1000Genomes_30x	South Asian	Sub	1202	A=0.5882	G=0.4118
1000Genomes_30x	East Asian	Sub	1170	A=0.7581	G=0.2419
1000Genomes_30x	American	Sub	980	A=0.546	G=0.454
1000Genomes	Global	Study-wide	5008	A=0.5847	G=0.4153
1000Genomes	African	Sub	1322	A=0.5257	G=0.4743
1000Genomes	East Asian	Sub	1008	A=0.7599	G=0.2401
1000Genomes	Europe	Sub	1006	A=0.5139	G=0.4861
1000Genomes	South Asian	Sub	978	A=0.587	G=0.413
1000Genomes	American	Sub	694	A=0.542	G=0.458
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5645	G=0.4355
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5150	G=0.4850
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5089	G=0.4911
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.6957	G=0.3043
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6960	G=0.3040
HapMap	Global	Study-wide	1792	A=0.5831	G=0.4169
HapMap	African	Sub	692	A=0.582	G=0.418
HapMap	American	Sub	670	A=0.536	G=0.464
HapMap	Asian	Sub	254	A=0.752	G=0.248
HapMap	Europe	Sub	176	A=0.523	G=0.477
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.491	G=0.509
CNV burdens in cranial meningiomas	Global	Study-wide	754	A=0.711	G=0.289
CNV burdens in cranial meningiomas	CRM	Sub	754	A=0.711	G=0.289
Northern Sweden	ACPOP	Study-wide	600	A=0.640	G=0.360
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.715	G=0.285
SGDP_PRJ	Global	Study-wide	346	A=0.367	G=0.633
FINRISK	Finnish from FINRISK project	Study-wide	300	A=0.593	G=0.407
Qatari	Global	Study-wide	216	A=0.593	G=0.407
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.805	G=0.195
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	A=0.69	G=0.31
Siberian	Global	Study-wide	42	A=0.40	G=0.60
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=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 1	NC_000001.11:g.16975285A>G
GRCh38.p14 chr 1	NC_000001.11:g.16975285A>T
GRCh37.p13 chr 1	NC_000001.10:g.17301780A>G
GRCh37.p13 chr 1	NC_000001.10:g.17301780A>T
MFAP2 RefSeqGene	NG_029688.1:g.11302T>C
MFAP2 RefSeqGene	NG_029688.1:g.11302T>A
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.1390459A>G
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.1390459A>T

Gene: MFAP2, microfibril associated protein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MFAP2 transcript variant 2	NM_002403.4:c.432T>C	H [CAT] > H [CAC]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform a precursor	NP_002394.1:p.His144=	H (His) > H (His)	Synonymous Variant
MFAP2 transcript variant 2	NM_002403.4:c.432T>A	H [CAT] > Q [CAA]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform a precursor	NP_002394.1:p.His144Gln	H (His) > Q (Gln)	Missense Variant
MFAP2 transcript variant 1	NM_017459.3:c.432T>C	H [CAT] > H [CAC]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform a precursor	NP_059453.1:p.His144=	H (His) > H (His)	Synonymous Variant
MFAP2 transcript variant 1	NM_017459.3:c.432T>A	H [CAT] > Q [CAA]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform a precursor	NP_059453.1:p.His144Gln	H (His) > Q (Gln)	Missense Variant
MFAP2 transcript variant 4	NM_001135248.2:c.429T>C	H [CAT] > H [CAC]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform b precursor	NP_001128720.1:p.His143=	H (His) > H (His)	Synonymous Variant
MFAP2 transcript variant 4	NM_001135248.2:c.429T>A	H [CAT] > Q [CAA]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform b precursor	NP_001128720.1:p.His143Gln	H (His) > Q (Gln)	Missense Variant
MFAP2 transcript variant 3	NM_001135247.2:c.429T>C	H [CAT] > H [CAC]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform b precursor	NP_001128719.1:p.His143=	H (His) > H (His)	Synonymous Variant
MFAP2 transcript variant 3	NM_001135247.2:c.429T>A	H [CAT] > Q [CAA]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform b precursor	NP_001128719.1:p.His143Gln	H (His) > Q (Gln)	Missense Variant
MFAP2 transcript variant X1	XM_047421027.1:c.432T>C	H [CAT] > H [CAC]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform X1	XP_047276983.1:p.His144=	H (His) > H (His)	Synonymous Variant
MFAP2 transcript variant X1	XM_047421027.1:c.432T>A	H [CAT] > Q [CAA]	Coding Sequence Variant
microfibrillar-associated protein 2 isoform X1	XP_047276983.1:p.His144Gln	H (His) > Q (Gln)	Missense Variant

Gene: LOC105376806, uncharacterized LOC105376806 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105376806 transcript	XR_947003.3:n.	N/A	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	A=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.16975285=	NC_000001.11:g.16975285A>G	NC_000001.11:g.16975285A>T
GRCh37.p13 chr 1	NC_000001.10:g.17301780=	NC_000001.10:g.17301780A>G	NC_000001.10:g.17301780A>T
MFAP2 RefSeqGene	NG_029688.1:g.11302=	NG_029688.1:g.11302T>C	NG_029688.1:g.11302T>A
MFAP2 transcript variant 2	NM_002403.4:c.432=	NM_002403.4:c.432T>C	NM_002403.4:c.432T>A
MFAP2 transcript variant 2	NM_002403.3:c.432=	NM_002403.3:c.432T>C	NM_002403.3:c.432T>A
MFAP2 transcript variant 1	NM_017459.3:c.432=	NM_017459.3:c.432T>C	NM_017459.3:c.432T>A
MFAP2 transcript variant 1	NM_017459.2:c.432=	NM_017459.2:c.432T>C	NM_017459.2:c.432T>A
MFAP2 transcript variant 3	NM_001135247.2:c.429=	NM_001135247.2:c.429T>C	NM_001135247.2:c.429T>A
MFAP2 transcript variant 3	NM_001135247.1:c.429=	NM_001135247.1:c.429T>C	NM_001135247.1:c.429T>A
MFAP2 transcript variant 4	NM_001135248.2:c.429=	NM_001135248.2:c.429T>C	NM_001135248.2:c.429T>A
MFAP2 transcript variant 4	NM_001135248.1:c.429=	NM_001135248.1:c.429T>C	NM_001135248.1:c.429T>A
GRCh38.p14 chr 1 fix patch HG1343_HG173_HG459_PATCH	NW_025791756.1:g.1390459=	NW_025791756.1:g.1390459A>G	NW_025791756.1:g.1390459A>T
MFAP2 transcript variant X1	XM_047421027.1:c.432=	XM_047421027.1:c.432T>C	XM_047421027.1:c.432T>A
microfibrillar-associated protein 2 isoform a precursor	NP_002394.1:p.His144=	NP_002394.1:p.His144=	NP_002394.1:p.His144Gln
microfibrillar-associated protein 2 isoform a precursor	NP_059453.1:p.His144=	NP_059453.1:p.His144=	NP_059453.1:p.His144Gln
microfibrillar-associated protein 2 isoform b precursor	NP_001128719.1:p.His143=	NP_001128719.1:p.His143=	NP_001128719.1:p.His143Gln
microfibrillar-associated protein 2 isoform b precursor	NP_001128720.1:p.His143=	NP_001128720.1:p.His143=	NP_001128720.1:p.His143Gln
microfibrillar-associated protein 2 isoform X1	XP_047276983.1:p.His144=	XP_047276983.1:p.His144=	XP_047276983.1:p.His144Gln

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#.

156 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss134767	Oct 05, 2000 (86)
2	LEE	ss1526480	Oct 13, 2000 (102)
3	WIAF-CSNP	ss3173006	Aug 15, 2001 (102)
4	LEE	ss4394833	May 29, 2002 (106)
5	LEE	ss4416834	May 29, 2002 (126)
6	CGAP-GAI	ss16227300	Feb 28, 2004 (126)
7	CSHL-HAPMAP	ss16401214	Feb 27, 2004 (120)
8	PERLEGEN	ss23175535	Sep 20, 2004 (123)
9	MGC_GENOME_DIFF	ss28505571	Sep 24, 2004 (126)
10	ABI	ss43910707	Mar 10, 2006 (126)
11	ILLUMINA	ss65739742	Oct 16, 2006 (127)
12	ILLUMINA	ss74857722	Dec 07, 2007 (129)
13	CGM_KYOTO	ss76878088	Dec 07, 2007 (129)
14	CORNELL	ss86241390	Mar 23, 2008 (129)
15	BCMHGSC_JDW	ss87260125	Mar 23, 2008 (129)
16	HUMANGENOME_JCVI	ss99189875	Feb 05, 2009 (130)
17	BGI	ss105125336	Dec 01, 2009 (131)
18	1000GENOMES	ss108020704	Jan 22, 2009 (130)
19	ILLUMINA-UK	ss118526214	Feb 14, 2009 (130)
20	KRIBB_YJKIM	ss119366950	Dec 01, 2009 (131)
21	ENSEMBL	ss131713856	Dec 01, 2009 (131)
22	ENSEMBL	ss137819165	Dec 01, 2009 (131)
23	GMI	ss154697874	Dec 01, 2009 (131)
24	SEATTLESEQ	ss159696368	Dec 01, 2009 (131)
25	ILLUMINA	ss160895376	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss163887135	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss166155906	Jul 04, 2010 (132)
28	ILLUMINA	ss174451843	Jul 04, 2010 (132)
29	BUSHMAN	ss198086492	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss205528580	Jul 04, 2010 (132)
31	1000GENOMES	ss210475708	Jul 14, 2010 (132)
32	1000GENOMES	ss218257058	Jul 14, 2010 (132)
33	1000GENOMES	ss230442411	Jul 14, 2010 (132)
34	1000GENOMES	ss238154304	Jul 15, 2010 (132)
35	ILLUMINA	ss244310225	Jul 04, 2010 (132)
36	BL	ss252948758	May 09, 2011 (134)
37	GMI	ss275734158	May 04, 2012 (137)
38	GMI	ss284008964	Apr 25, 2013 (138)
39	PJP	ss290701782	May 09, 2011 (134)
40	NHLBI-ESP	ss341938236	May 09, 2011 (134)
41	ILLUMINA	ss481617075	May 04, 2012 (137)
42	ILLUMINA	ss481647230	May 04, 2012 (137)
43	ILLUMINA	ss482615076	Sep 08, 2015 (146)
44	ILLUMINA	ss485603360	May 04, 2012 (137)
45	1000GENOMES	ss489724055	May 04, 2012 (137)
46	CLINSEQ_SNP	ss491586910	May 04, 2012 (137)
47	ILLUMINA	ss537490932	Sep 08, 2015 (146)
48	TISHKOFF	ss553838650	Apr 25, 2013 (138)
49	SSMP	ss647606700	Apr 25, 2013 (138)
50	ILLUMINA	ss778608743	Sep 08, 2015 (146)
51	ILLUMINA	ss783247293	Sep 08, 2015 (146)
52	ILLUMINA	ss784200961	Sep 08, 2015 (146)
53	ILLUMINA	ss832507959	Sep 08, 2015 (146)
54	ILLUMINA	ss834066124	Sep 08, 2015 (146)
55	JMKIDD_LAB	ss974433485	Aug 21, 2014 (142)
56	EVA-GONL	ss974896750	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1067416935	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1067698335	Aug 21, 2014 (142)
59	1000GENOMES	ss1289845089	Aug 21, 2014 (142)
60	DDI	ss1425728757	Apr 01, 2015 (144)
61	EVA_GENOME_DK	ss1573910815	Apr 01, 2015 (144)
62	EVA_FINRISK	ss1584005156	Apr 01, 2015 (144)
63	EVA_DECODE	ss1584253946	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1599625296	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1642619329	Apr 01, 2015 (144)
66	EVA_EXAC	ss1685344116	Apr 01, 2015 (144)
67	EVA_MGP	ss1710892093	Apr 01, 2015 (144)
68	EVA_SVP	ss1712314008	Apr 01, 2015 (144)
69	ILLUMINA	ss1751881921	Sep 08, 2015 (146)
70	HAMMER_LAB	ss1793978471	Sep 08, 2015 (146)
71	WEILL_CORNELL_DGM	ss1918106194	Feb 12, 2016 (147)
72	ILLUMINA	ss1945986121	Feb 12, 2016 (147)
73	ILLUMINA	ss1958246918	Feb 12, 2016 (147)
74	GENOMED	ss1966693727	Jul 19, 2016 (147)
75	JJLAB	ss2019564451	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2147566473	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2160337739	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2624298520	Nov 08, 2017 (151)
79	ILLUMINA	ss2632482769	Nov 08, 2017 (151)
80	GRF	ss2697470276	Nov 08, 2017 (151)
81	ILLUMINA	ss2710661277	Nov 08, 2017 (151)
82	GNOMAD	ss2731182263	Nov 08, 2017 (151)
83	GNOMAD	ss2746236745	Nov 08, 2017 (151)
84	GNOMAD	ss2752135723	Nov 08, 2017 (151)
85	SWEGEN	ss2986387904	Nov 08, 2017 (151)
86	ILLUMINA	ss3021060189	Nov 08, 2017 (151)
87	EVA_SAMSUNG_MC	ss3023056414	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3023546540	Nov 08, 2017 (151)
89	CSHL	ss3343343191	Nov 08, 2017 (151)
90	ILLUMINA	ss3625526565	Oct 11, 2018 (152)
91	ILLUMINA	ss3626035784	Oct 11, 2018 (152)
92	ILLUMINA	ss3630520813	Oct 11, 2018 (152)
93	ILLUMINA	ss3632882220	Oct 11, 2018 (152)
94	ILLUMINA	ss3633576159	Oct 11, 2018 (152)
95	ILLUMINA	ss3634309261	Oct 11, 2018 (152)
96	ILLUMINA	ss3635270235	Oct 11, 2018 (152)
97	ILLUMINA	ss3635985417	Oct 11, 2018 (152)
98	ILLUMINA	ss3637020616	Oct 11, 2018 (152)
99	ILLUMINA	ss3637739807	Oct 11, 2018 (152)
100	ILLUMINA	ss3640016625	Oct 11, 2018 (152)
101	ILLUMINA	ss3640975603	Oct 11, 2018 (152)
102	ILLUMINA	ss3641269462	Oct 11, 2018 (152)
103	ILLUMINA	ss3642753430	Oct 11, 2018 (152)
104	ILLUMINA	ss3644481966	Oct 11, 2018 (152)
105	OMUKHERJEE_ADBS	ss3646225515	Oct 11, 2018 (152)
106	URBANLAB	ss3646610693	Oct 11, 2018 (152)
107	ILLUMINA	ss3651384398	Oct 11, 2018 (152)
108	EGCUT_WGS	ss3654456368	Jul 12, 2019 (153)
109	EVA_DECODE	ss3686247757	Jul 12, 2019 (153)
110	ILLUMINA	ss3725000504	Jul 12, 2019 (153)
111	ACPOP	ss3726826841	Jul 12, 2019 (153)
112	ILLUMINA	ss3744042513	Jul 12, 2019 (153)
113	ILLUMINA	ss3744610225	Jul 12, 2019 (153)
114	EVA	ss3745879051	Jul 12, 2019 (153)
115	PAGE_CC	ss3770788689	Jul 12, 2019 (153)
116	ILLUMINA	ss3772111817	Jul 12, 2019 (153)
117	KHV_HUMAN_GENOMES	ss3798901436	Jul 12, 2019 (153)
118	EVA	ss3823567459	Apr 25, 2020 (154)
119	EVA	ss3825517770	Apr 25, 2020 (154)
120	EVA	ss3825534923	Apr 25, 2020 (154)
121	EVA	ss3825555106	Apr 25, 2020 (154)
122	EVA	ss3826044445	Apr 25, 2020 (154)
123	EVA	ss3836410402	Apr 25, 2020 (154)
124	EVA	ss3841814729	Apr 25, 2020 (154)
125	SGDP_PRJ	ss3848305411	Apr 25, 2020 (154)
126	KRGDB	ss3893207770	Apr 25, 2020 (154)
127	KOGIC	ss3943927722	Apr 25, 2020 (154)
128	FSA-LAB	ss3983919423	Apr 27, 2021 (155)
129	FSA-LAB	ss3983919424	Apr 27, 2021 (155)
130	EVA	ss3984452840	Apr 27, 2021 (155)
131	EVA	ss3984780912	Apr 27, 2021 (155)
132	EVA	ss3986103012	Apr 27, 2021 (155)
133	EVA	ss4016895448	Apr 27, 2021 (155)
134	TOPMED	ss4440540336	Apr 27, 2021 (155)
135	TOMMO_GENOMICS	ss5142708116	Apr 27, 2021 (155)
136	EVA	ss5236865181	Apr 27, 2021 (155)
137	EVA	ss5237159909	Apr 27, 2021 (155)
138	1000G_HIGH_COVERAGE	ss5241339746	Oct 12, 2022 (156)
139	EVA	ss5314596153	Oct 12, 2022 (156)
140	EVA	ss5317027922	Oct 12, 2022 (156)
141	HUGCELL_USP	ss5442505474	Oct 12, 2022 (156)
142	1000G_HIGH_COVERAGE	ss5513169999	Oct 12, 2022 (156)
143	EVA	ss5623913126	Oct 12, 2022 (156)
144	EVA	ss5623988736	Oct 12, 2022 (156)
145	SANFORD_IMAGENETICS	ss5625018224	Oct 12, 2022 (156)
146	TOMMO_GENOMICS	ss5667078153	Oct 12, 2022 (156)
147	EVA	ss5799476295	Oct 12, 2022 (156)
148	EVA	ss5800078699	Oct 12, 2022 (156)
149	YY_MCH	ss5800369533	Oct 12, 2022 (156)
150	EVA	ss5831601493	Oct 12, 2022 (156)
151	EVA	ss5847527364	Oct 12, 2022 (156)
152	EVA	ss5848250342	Oct 12, 2022 (156)
153	EVA	ss5848801403	Oct 12, 2022 (156)
154	EVA	ss5907202160	Oct 12, 2022 (156)
155	EVA	ss5936830636	Oct 12, 2022 (156)
156	EVA	ss5981190957	Oct 12, 2022 (156)
157	1000Genomes	NC_000001.10 - 17301780	Oct 11, 2018 (152)
158	1000Genomes_30x	NC_000001.11 - 16975285	Oct 12, 2022 (156)
159	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 17301780	Oct 11, 2018 (152)
160	Genetic variation in the Estonian population	NC_000001.10 - 17301780	Oct 11, 2018 (152)
161	ExAC	NC_000001.10 - 17301780	Oct 11, 2018 (152)
162	FINRISK	NC_000001.10 - 17301780	Apr 25, 2020 (154)
163	The Danish reference pan genome	NC_000001.10 - 17301780	Apr 25, 2020 (154)
164	gnomAD - Genomes	NC_000001.11 - 16975285	Apr 27, 2021 (155)
165	gnomAD - Exomes	NC_000001.10 - 17301780	Jul 12, 2019 (153)
166	GO Exome Sequencing Project	NC_000001.10 - 17301780	Oct 11, 2018 (152)
167	Genome of the Netherlands Release 5	NC_000001.10 - 17301780	Apr 25, 2020 (154)
168	HapMap	NC_000001.11 - 16975285	Apr 25, 2020 (154)
169	KOREAN population from KRGDB	NC_000001.10 - 17301780	Apr 25, 2020 (154)
170	Korean Genome Project	NC_000001.11 - 16975285	Apr 25, 2020 (154)
171	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 17301780	Apr 25, 2020 (154)
172	Northern Sweden	NC_000001.10 - 17301780	Jul 12, 2019 (153)
173	The PAGE Study	NC_000001.11 - 16975285	Jul 12, 2019 (153)
174	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 17301780	Apr 27, 2021 (155)
175	CNV burdens in cranial meningiomas	NC_000001.10 - 17301780	Apr 27, 2021 (155)
176	Qatari	NC_000001.10 - 17301780	Apr 25, 2020 (154)
177	SGDP_PRJ	NC_000001.10 - 17301780	Apr 25, 2020 (154)
178	Siberian	NC_000001.10 - 17301780	Apr 25, 2020 (154)
179	8.3KJPN	NC_000001.10 - 17301780	Apr 27, 2021 (155)
180	14KJPN	NC_000001.11 - 16975285	Oct 12, 2022 (156)
181	TopMed	NC_000001.11 - 16975285	Apr 27, 2021 (155)
182	UK 10K study - Twins	NC_000001.10 - 17301780	Oct 11, 2018 (152)
183	A Vietnamese Genetic Variation Database	NC_000001.10 - 17301780	Jul 12, 2019 (153)
184	ALFA	NC_000001.11 - 16975285	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)
rs1131534	Jan 04, 2002 (102)
rs2228335	Jan 04, 2002 (102)
rs3177988	Jul 03, 2002 (106)
rs3191555	Mar 10, 2006 (126)
rs11539872	Mar 10, 2006 (126)
rs17851269	Mar 10, 2006 (126)
rs116978122	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss87260125, ss108020704, ss118526214, ss163887135, ss166155906, ss198086492, ss205528580, ss210475708, ss252948758, ss275734158, ss284008964, ss290701782, ss481617075, ss491586910, ss1584253946, ss1712314008, ss2710661277, ss3642753430	NC_000001.9:17174366:A:G	NC_000001.11:16975284:A:G	(self)
526837, 271944, 194616, 4526214, 1617, 1405818, 194663, 26180, 118736, 385164, 8845, 111706, 6839, 2142, 148124, 322391, 82827, 677423, 271944, 58022, ss218257058, ss230442411, ss238154304, ss341938236, ss481647230, ss482615076, ss485603360, ss489724055, ss537490932, ss553838650, ss647606700, ss778608743, ss783247293, ss784200961, ss832507959, ss834066124, ss974433485, ss974896750, ss1067416935, ss1067698335, ss1289845089, ss1425728757, ss1573910815, ss1584005156, ss1599625296, ss1642619329, ss1685344116, ss1710892093, ss1751881921, ss1793978471, ss1918106194, ss1945986121, ss1958246918, ss1966693727, ss2019564451, ss2147566473, ss2624298520, ss2632482769, ss2697470276, ss2731182263, ss2746236745, ss2752135723, ss2986387904, ss3021060189, ss3023056414, ss3343343191, ss3625526565, ss3626035784, ss3630520813, ss3632882220, ss3633576159, ss3634309261, ss3635270235, ss3635985417, ss3637020616, ss3637739807, ss3640016625, ss3640975603, ss3641269462, ss3644481966, ss3646225515, ss3651384398, ss3654456368, ss3726826841, ss3744042513, ss3744610225, ss3745879051, ss3772111817, ss3823567459, ss3825517770, ss3825534923, ss3825555106, ss3826044445, ss3836410402, ss3848305411, ss3893207770, ss3983919423, ss3983919424, ss3984452840, ss3984780912, ss3986103012, ss4016895448, ss5142708116, ss5314596153, ss5317027922, ss5623913126, ss5623988736, ss5625018224, ss5799476295, ss5800078699, ss5831601493, ss5847527364, ss5848250342, ss5936830636, ss5981190957	NC_000001.10:17301779:A:G	NC_000001.11:16975284:A:G	(self)
695934, 3700477, 20406, 305723, 10158, 915257, 4146671, 9341030497, ss2160337739, ss3023546540, ss3646610693, ss3686247757, ss3725000504, ss3770788689, ss3798901436, ss3841814729, ss3943927722, ss4440540336, ss5236865181, ss5237159909, ss5241339746, ss5442505474, ss5513169999, ss5667078153, ss5800369533, ss5848801403, ss5907202160	NC_000001.11:16975284:A:G	NC_000001.11:16975284:A:G	(self)
ss134767, ss1526480, ss3173006, ss4394833, ss4416834, ss16227300, ss23175535, ss28505571, ss43910707, ss65739742, ss74857722, ss76878088, ss86241390, ss99189875, ss105125336, ss119366950, ss131713856, ss137819165, ss154697874, ss159696368, ss160895376, ss174451843, ss244310225	NT_004610.19:3981867:A:G	NC_000001.11:16975284:A:G	(self)
ss16401214	NT_030584.10:126121:A:G	NC_000001.11:16975284:A:G	(self)
9341030497	NC_000001.11:16975284:A:T	NC_000001.11:16975284:A: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 rs761422

PMID	Title	Author	Year	Journal
18843385	Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.	Burdon KP et al.	2008	Molecular vision

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

rs761422