Name: rs2276288
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.

rs2276288

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:77201591 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.403850 (106895/264690, TOPMED)
A=0.450018 (112059/249010, GnomAD_exome)
A=0.401362 (56173/139956, GnomAD) (+ 22 more)
A=0.456006 (55008/120630, ExAC)
A=0.455569 (52128/114424, ALFA)
A=0.38252 (30045/78544, PAGE_STUDY)
T=0.46557 (13156/28258, 14KJPN)
T=0.46133 (7731/16758, 8.3KJPN)
A=0.41089 (5238/12748, GO-ESP)
A=0.4422 (2832/6404, 1000G_30x)
A=0.4483 (2245/5008, 1000G)
A=0.4147 (1858/4480, Estonian)
A=0.4484 (1728/3854, ALSPAC)
A=0.4377 (1623/3708, TWINSUK)
T=0.4904 (1437/2930, KOREAN)
A=0.4913 (900/1832, Korea1K)
A=0.433 (432/998, GoNL)
A=0.427 (256/600, NorthernSweden)
T=0.498 (266/534, MGP)
A=0.275 (120/436, SGDP_PRJ)
A=0.352 (107/304, FINRISK)
T=0.431 (93/216, Qatari)
T=0.438 (92/210, Vietnamese)
A=0.20 (11/56, Siberian)
A=0.45 (18/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MYO7A : Missense Variant
Publications: 6 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	114424	A=0.455569	T=0.544431
European	Sub	96760	A=0.45773	T=0.54227
African	Sub	4372	A=0.3438	T=0.6562
African Others	Sub	174	A=0.259	T=0.741
African American	Sub	4198	A=0.3473	T=0.6527
Asian	Sub	3280	A=0.5116	T=0.4884
East Asian	Sub	2626	A=0.5046	T=0.4954
Other Asian	Sub	654	A=0.540	T=0.460
Latin American 1	Sub	784	A=0.453	T=0.547
Latin American 2	Sub	946	A=0.374	T=0.626
South Asian	Sub	274	A=0.642	T=0.358
Other	Sub	8008	A=0.4710	T=0.5290

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	A=0.403850	T=0.596150
gnomAD - Exomes	Global	Study-wide	249010	A=0.450018	T=0.549982
gnomAD - Exomes	European	Sub	134352	A=0.437790	T=0.562210
gnomAD - Exomes	Asian	Sub	48556	A=0.58880	T=0.41120
gnomAD - Exomes	American	Sub	34498	A=0.32918	T=0.67082
gnomAD - Exomes	African	Sub	15494	A=0.31199	T=0.68801
gnomAD - Exomes	Ashkenazi Jewish	Sub	10058	A=0.55498	T=0.44502
gnomAD - Exomes	Other	Sub	6052	A=0.4757	T=0.5243
gnomAD - Genomes	Global	Study-wide	139956	A=0.401362	T=0.598638
gnomAD - Genomes	European	Sub	75776	A=0.44248	T=0.55752
gnomAD - Genomes	African	Sub	41942	A=0.31503	T=0.68497
gnomAD - Genomes	American	Sub	13642	A=0.36820	T=0.63180
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.5617	T=0.4383
gnomAD - Genomes	East Asian	Sub	3126	A=0.5176	T=0.4824
gnomAD - Genomes	Other	Sub	2150	A=0.4302	T=0.5698
ExAC	Global	Study-wide	120630	A=0.456006	T=0.543994
ExAC	Europe	Sub	73254	A=0.44777	T=0.55223
ExAC	Asian	Sub	25094	A=0.59253	T=0.40747
ExAC	American	Sub	11558	A=0.32696	T=0.67304
ExAC	African	Sub	9832	A=0.3159	T=0.6841
ExAC	Other	Sub	892	A=0.508	T=0.492
Allele Frequency Aggregator	Total	Global	114424	A=0.455569	T=0.544431
Allele Frequency Aggregator	European	Sub	96760	A=0.45773	T=0.54227
Allele Frequency Aggregator	Other	Sub	8008	A=0.4710	T=0.5290
Allele Frequency Aggregator	African	Sub	4372	A=0.3438	T=0.6562
Allele Frequency Aggregator	Asian	Sub	3280	A=0.5116	T=0.4884
Allele Frequency Aggregator	Latin American 2	Sub	946	A=0.374	T=0.626
Allele Frequency Aggregator	Latin American 1	Sub	784	A=0.453	T=0.547
Allele Frequency Aggregator	South Asian	Sub	274	A=0.642	T=0.358
The PAGE Study	Global	Study-wide	78544	A=0.38252	T=0.61748
The PAGE Study	AfricanAmerican	Sub	32444	A=0.31565	T=0.68435
The PAGE Study	Mexican	Sub	10800	A=0.35306	T=0.64694
The PAGE Study	Asian	Sub	8296	A=0.5333	T=0.4667
The PAGE Study	PuertoRican	Sub	7906	A=0.3992	T=0.6008
The PAGE Study	NativeHawaiian	Sub	4526	A=0.5692	T=0.4308
The PAGE Study	Cuban	Sub	4214	A=0.4478	T=0.5522
The PAGE Study	Dominican	Sub	3820	A=0.3777	T=0.6223
The PAGE Study	CentralAmerican	Sub	2446	A=0.3242	T=0.6758
The PAGE Study	SouthAmerican	Sub	1980	A=0.3404	T=0.6596
The PAGE Study	NativeAmerican	Sub	1258	A=0.3983	T=0.6017
The PAGE Study	SouthAsian	Sub	854	A=0.629	T=0.371
14KJPN	JAPANESE	Study-wide	28258	A=0.53443	T=0.46557
8.3KJPN	JAPANESE	Study-wide	16758	A=0.53867	T=0.46133
GO Exome Sequencing Project	Global	Study-wide	12748	A=0.41089	T=0.58911
GO Exome Sequencing Project	European American	Sub	8462	A=0.4575	T=0.5425
GO Exome Sequencing Project	African American	Sub	4286	A=0.3189	T=0.6811
1000Genomes_30x	Global	Study-wide	6404	A=0.4422	T=0.5578
1000Genomes_30x	African	Sub	1786	A=0.2732	T=0.7268
1000Genomes_30x	Europe	Sub	1266	A=0.4376	T=0.5624
1000Genomes_30x	South Asian	Sub	1202	A=0.6656	T=0.3344
1000Genomes_30x	East Asian	Sub	1170	A=0.5436	T=0.4564
1000Genomes_30x	American	Sub	980	A=0.361	T=0.639
1000Genomes	Global	Study-wide	5008	A=0.4483	T=0.5517
1000Genomes	African	Sub	1322	A=0.2746	T=0.7254
1000Genomes	East Asian	Sub	1008	A=0.5476	T=0.4524
1000Genomes	Europe	Sub	1006	A=0.4344	T=0.5656
1000Genomes	South Asian	Sub	978	A=0.662	T=0.338
1000Genomes	American	Sub	694	A=0.354	T=0.646
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4147	T=0.5853
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4484	T=0.5516
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4377	T=0.5623
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5096	T=0.4904
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4913	T=0.5087
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.433	T=0.567
Northern Sweden	ACPOP	Study-wide	600	A=0.427	T=0.573
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.502	T=0.498
SGDP_PRJ	Global	Study-wide	436	A=0.275	T=0.725
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.352	T=0.648
Qatari	Global	Study-wide	216	A=0.569	T=0.431
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.562	T=0.438
Siberian	Global	Study-wide	56	A=0.20	T=0.80
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	T=0.55

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 11	NC_000011.10:g.77201591A>T
GRCh37.p13 chr 11	NC_000011.9:g.76912636A>T
MYO7A RefSeqGene (LRG_1420)	NG_009086.2:g.78346A>T

Gene: MYO7A, myosin VIIA (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MYO7A transcript variant 1	NM_000260.4:c.4996A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform 1	NP_000251.3:p.Ser1666Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant 4	NM_001369365.1:c.4849A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform 4	NP_001356294.1:p.Ser1617C… NP_001356294.1:p.Ser1617Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant 2	NM_001127180.2:c.4882A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform 2	NP_001120652.1:p.Ser1628C… NP_001120652.1:p.Ser1628Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X20	XM_017017787.2:c.	N/A	Genic Downstream Transcript Variant
MYO7A transcript variant X1	XM_011545046.3:c.5086A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X1	XP_011543348.2:p.Ser1696C… XP_011543348.2:p.Ser1696Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X2	XM_017017778.2:c.5080A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X2	XP_016873267.1:p.Ser1694C… XP_016873267.1:p.Ser1694Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X3	XM_017017779.2:c.5077A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X3	XP_016873268.1:p.Ser1693C… XP_016873268.1:p.Ser1693Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X4	XM_017017780.2:c.5086A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X4	XP_016873269.1:p.Ser1696C… XP_016873269.1:p.Ser1696Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X5	XM_011545044.3:c.4996A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X5	XP_011543346.1:p.Ser1666C… XP_011543346.1:p.Ser1666Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X6	XM_017017781.2:c.4990A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X6	XP_016873270.1:p.Ser1664C… XP_016873270.1:p.Ser1664Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X7	XM_017017782.2:c.4972A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X7	XP_016873271.1:p.Ser1658C… XP_016873271.1:p.Ser1658Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X8	XM_017017783.2:c.4969A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X8	XP_016873272.1:p.Ser1657C… XP_016873272.1:p.Ser1657Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X9	XM_017017784.2:c.4969A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X9	XP_016873273.1:p.Ser1657C… XP_016873273.1:p.Ser1657Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X10	XM_047426970.1:c.4900A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X10	XP_047282926.1:p.Ser1634C… XP_047282926.1:p.Ser1634Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X11	XM_017017785.2:c.4849A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X11	XP_016873274.1:p.Ser1617C… XP_016873274.1:p.Ser1617Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X12	XM_017017786.2:c.5086A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X12	XP_016873275.1:p.Ser1696C… XP_016873275.1:p.Ser1696Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X13	XM_047426971.1:c.4759A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X13	XP_047282927.1:p.Ser1587C… XP_047282927.1:p.Ser1587Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X14	XM_011545050.3:c.4732A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X14	XP_011543352.1:p.Ser1578C… XP_011543352.1:p.Ser1578Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X15	XM_047426972.1:c.5086A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X15	XP_047282928.1:p.Ser1696C… XP_047282928.1:p.Ser1696Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X16	XM_047426973.1:c.4963A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X16	XP_047282929.1:p.Ser1655C… XP_047282929.1:p.Ser1655Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X17	XM_047426974.1:c.5086A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X17	XP_047282930.1:p.Ser1696C… XP_047282930.1:p.Ser1696Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X21	XM_017017788.2:c.4972A>T	S [AGT] > C [TGT]	Coding Sequence Variant
unconventional myosin-VIIa isoform X19	XP_016873277.1:p.Ser1658C… XP_016873277.1:p.Ser1658Cys	S (Ser) > C (Cys)	Missense Variant
MYO7A transcript variant X18	XR_001747888.2:n.5183A>T	N/A	Non Coding Transcript Variant
MYO7A transcript variant X19	XR_001747889.2: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.

Allele: T (allele ID: 52439 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000036174.8	not specified	Benign
RCV000294774.5	Autosomal recessive nonsyndromic hearing loss 2	Benign
RCV000335830.5	Autosomal dominant nonsyndromic hearing loss 11	Benign
RCV000389186.5	Usher syndrome type 1	Benign
RCV001273505.1	Usher syndrome type 1B	Benign
RCV001512276.5	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	A=	T
GRCh38.p14 chr 11	NC_000011.10:g.77201591=	NC_000011.10:g.77201591A>T
GRCh37.p13 chr 11	NC_000011.9:g.76912636=	NC_000011.9:g.76912636A>T
MYO7A RefSeqGene (LRG_1420)	NG_009086.2:g.78346=	NG_009086.2:g.78346A>T
MYO7A transcript variant 1	NM_000260.4:c.4996=	NM_000260.4:c.4996A>T
MYO7A transcript variant 1	NM_000260.3:c.4996=	NM_000260.3:c.4996A>T
MYO7A transcript variant 2	NM_001127180.2:c.4882=	NM_001127180.2:c.4882A>T
MYO7A transcript variant 2	NM_001127180.1:c.4882=	NM_001127180.1:c.4882A>T
MYO7A transcript variant 4	NM_001369365.1:c.4849=	NM_001369365.1:c.4849A>T
MYO7A transcript variant X5	XM_011545044.3:c.4996=	XM_011545044.3:c.4996A>T
MYO7A transcript variant X5	XM_011545044.2:c.4996=	XM_011545044.2:c.4996A>T
MYO7A transcript variant X1	XM_011545044.1:c.4996=	XM_011545044.1:c.4996A>T
MYO7A transcript variant X1	XM_011545046.3:c.5086=	XM_011545046.3:c.5086A>T
MYO7A transcript variant X1	XM_011545046.2:c.5086=	XM_011545046.2:c.5086A>T
MYO7A transcript variant X5	XM_011545046.1:c.4963=	XM_011545046.1:c.4963A>T
MYO7A transcript variant X14	XM_011545050.3:c.4732=	XM_011545050.3:c.4732A>T
MYO7A transcript variant X12	XM_011545050.2:c.4732=	XM_011545050.2:c.4732A>T
MYO7A transcript variant X12	XM_011545050.1:c.4732=	XM_011545050.1:c.4732A>T
MYO7A transcript variant X4	XM_017017780.2:c.5086=	XM_017017780.2:c.5086A>T
MYO7A transcript variant X4	XM_017017780.1:c.5086=	XM_017017780.1:c.5086A>T
MYO7A transcript variant X21	XM_017017788.2:c.4972=	XM_017017788.2:c.4972A>T
MYO7A transcript variant X19	XM_017017788.1:c.4972=	XM_017017788.1:c.4972A>T
MYO7A transcript variant X9	XM_017017784.2:c.4969=	XM_017017784.2:c.4969A>T
MYO7A transcript variant X9	XM_017017784.1:c.4969=	XM_017017784.1:c.4969A>T
MYO7A transcript variant X2	XM_017017778.2:c.5080=	XM_017017778.2:c.5080A>T
MYO7A transcript variant X2	XM_017017778.1:c.5080=	XM_017017778.1:c.5080A>T
MYO7A transcript variant X3	XM_017017779.2:c.5077=	XM_017017779.2:c.5077A>T
MYO7A transcript variant X3	XM_017017779.1:c.5077=	XM_017017779.1:c.5077A>T
MYO7A transcript variant X6	XM_017017781.2:c.4990=	XM_017017781.2:c.4990A>T
MYO7A transcript variant X6	XM_017017781.1:c.4990=	XM_017017781.1:c.4990A>T
MYO7A transcript variant X7	XM_017017782.2:c.4972=	XM_017017782.2:c.4972A>T
MYO7A transcript variant X7	XM_017017782.1:c.4972=	XM_017017782.1:c.4972A>T
MYO7A transcript variant X8	XM_017017783.2:c.4969=	XM_017017783.2:c.4969A>T
MYO7A transcript variant X8	XM_017017783.1:c.4969=	XM_017017783.1:c.4969A>T
MYO7A transcript variant X11	XM_017017785.2:c.4849=	XM_017017785.2:c.4849A>T
MYO7A transcript variant X10	XM_017017785.1:c.4849=	XM_017017785.1:c.4849A>T
MYO7A transcript variant X12	XM_017017786.2:c.5086=	XM_017017786.2:c.5086A>T
MYO7A transcript variant X11	XM_017017786.1:c.5086=	XM_017017786.1:c.5086A>T
MYO7A transcript variant X18	XR_001747888.2:n.5183=	XR_001747888.2:n.5183A>T
MYO7A transcript variant X16	XR_001747888.1:n.5101=	XR_001747888.1:n.5101A>T
MYO7A transcript variant X10	XM_047426970.1:c.4900=	XM_047426970.1:c.4900A>T
MYO7A transcript variant X16	XM_047426973.1:c.4963=	XM_047426973.1:c.4963A>T
MYO7A transcript variant X13	XM_047426971.1:c.4759=	XM_047426971.1:c.4759A>T
MYO7A transcript variant X15	XM_047426972.1:c.5086=	XM_047426972.1:c.5086A>T
MYO7A transcript variant X17	XM_047426974.1:c.5086=	XM_047426974.1:c.5086A>T
unconventional myosin-VIIa isoform 1	NP_000251.3:p.Ser1666=	NP_000251.3:p.Ser1666Cys
unconventional myosin-VIIa isoform 2	NP_001120652.1:p.Ser1628=	NP_001120652.1:p.Ser1628Cys
unconventional myosin-VIIa isoform 4	NP_001356294.1:p.Ser1617=	NP_001356294.1:p.Ser1617Cys
unconventional myosin-VIIa isoform X5	XP_011543346.1:p.Ser1666=	XP_011543346.1:p.Ser1666Cys
unconventional myosin-VIIa isoform X1	XP_011543348.2:p.Ser1696=	XP_011543348.2:p.Ser1696Cys
unconventional myosin-VIIa isoform X14	XP_011543352.1:p.Ser1578=	XP_011543352.1:p.Ser1578Cys
unconventional myosin-VIIa isoform X4	XP_016873269.1:p.Ser1696=	XP_016873269.1:p.Ser1696Cys
unconventional myosin-VIIa isoform X19	XP_016873277.1:p.Ser1658=	XP_016873277.1:p.Ser1658Cys
unconventional myosin-VIIa isoform X9	XP_016873273.1:p.Ser1657=	XP_016873273.1:p.Ser1657Cys
unconventional myosin-VIIa isoform X2	XP_016873267.1:p.Ser1694=	XP_016873267.1:p.Ser1694Cys
unconventional myosin-VIIa isoform X3	XP_016873268.1:p.Ser1693=	XP_016873268.1:p.Ser1693Cys
unconventional myosin-VIIa isoform X6	XP_016873270.1:p.Ser1664=	XP_016873270.1:p.Ser1664Cys
unconventional myosin-VIIa isoform X7	XP_016873271.1:p.Ser1658=	XP_016873271.1:p.Ser1658Cys
unconventional myosin-VIIa isoform X8	XP_016873272.1:p.Ser1657=	XP_016873272.1:p.Ser1657Cys
unconventional myosin-VIIa isoform X11	XP_016873274.1:p.Ser1617=	XP_016873274.1:p.Ser1617Cys
unconventional myosin-VIIa isoform X12	XP_016873275.1:p.Ser1696=	XP_016873275.1:p.Ser1696Cys
unconventional myosin-VIIa isoform X10	XP_047282926.1:p.Ser1634=	XP_047282926.1:p.Ser1634Cys
unconventional myosin-VIIa isoform X16	XP_047282929.1:p.Ser1655=	XP_047282929.1:p.Ser1655Cys
unconventional myosin-VIIa isoform X13	XP_047282927.1:p.Ser1587=	XP_047282927.1:p.Ser1587Cys
unconventional myosin-VIIa isoform X15	XP_047282928.1:p.Ser1696=	XP_047282928.1:p.Ser1696Cys
unconventional myosin-VIIa isoform X17	XP_047282930.1:p.Ser1696=	XP_047282930.1:p.Ser1696Cys

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#.

165 SubSNP, 27 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3212732	Sep 28, 2001 (100)
2	SC_SNP	ss15917184	Feb 27, 2004 (120)
3	SSAHASNP	ss20789519	Apr 05, 2004 (121)
4	ABI	ss38710792	Mar 14, 2006 (126)
5	KRIBB_YJKIM	ss65844235	Nov 29, 2006 (127)
6	SI_EXO	ss71648461	May 16, 2007 (127)
7	CGM_KYOTO	ss76872777	Dec 06, 2007 (129)
8	HGSV	ss77452121	Dec 06, 2007 (129)
9	HGSV	ss85293769	Dec 14, 2007 (130)
10	HGSV	ss85443209	Dec 14, 2007 (130)
11	HUMANGENOME_JCVI	ss97399249	Feb 04, 2009 (130)
12	BGI	ss106753405	Feb 04, 2009 (130)
13	1000GENOMES	ss110685457	Jan 25, 2009 (130)
14	1000GENOMES	ss114818215	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss119902978	Dec 01, 2009 (131)
16	ENSEMBL	ss132029954	Dec 01, 2009 (131)
17	ILLUMINA	ss160526411	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168591827	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss170308051	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss175193033	Jul 04, 2010 (132)
21	BUSHMAN	ss202904529	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss207885336	Jul 04, 2010 (132)
23	1000GENOMES	ss225324809	Jul 14, 2010 (132)
24	1000GENOMES	ss235619039	Jul 15, 2010 (132)
25	1000GENOMES	ss242239669	Jul 15, 2010 (132)
26	GMI	ss281072675	May 04, 2012 (137)
27	PJP	ss291076630	May 09, 2011 (134)
28	ILLUMINA	ss480499858	May 04, 2012 (137)
29	ILLUMINA	ss480514234	May 04, 2012 (137)
30	ILLUMINA	ss481319978	Sep 08, 2015 (146)
31	ILLUMINA	ss485047438	May 04, 2012 (137)
32	EXOME_CHIP	ss491456572	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491651148	May 04, 2012 (137)
34	ILLUMINA	ss537067214	Sep 08, 2015 (146)
35	TISHKOFF	ss562665000	Apr 25, 2013 (138)
36	SSMP	ss658179597	Apr 25, 2013 (138)
37	NHLBI-ESP	ss713038570	Apr 25, 2013 (138)
38	ILLUMINA	ss778719018	Aug 21, 2014 (142)
39	ILLUMINA	ss780902006	Aug 21, 2014 (142)
40	ILLUMINA	ss782969937	Aug 21, 2014 (142)
41	ILLUMINA	ss783589175	Aug 21, 2014 (142)
42	ILLUMINA	ss783931557	Aug 21, 2014 (142)
43	ILLUMINA	ss832226247	Apr 01, 2015 (144)
44	ILLUMINA	ss834178394	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss974480503	Aug 21, 2014 (142)
46	EVA-GONL	ss988697296	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067526676	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1077848753	Aug 21, 2014 (142)
49	1000GENOMES	ss1341969102	Aug 21, 2014 (142)
50	DDI	ss1426681595	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1575802638	Apr 01, 2015 (144)
52	EVA_FINRISK	ss1584077069	Apr 01, 2015 (144)
53	EVA_DECODE	ss1598358496	Apr 01, 2015 (144)
54	EVA_UK10K_ALSPAC	ss1626938524	Apr 01, 2015 (144)
55	EVA_UK10K_TWINSUK	ss1669932557	Apr 01, 2015 (144)
56	EVA_EXAC	ss1690559531	Apr 01, 2015 (144)
57	EVA_MGP	ss1711303060	Apr 01, 2015 (144)
58	ILLUMINA	ss1752033092	Sep 08, 2015 (146)
59	ILLUMINA	ss1752033093	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1806885880	Sep 08, 2015 (146)
61	ILLUMINA	ss1917864221	Feb 12, 2016 (147)
62	WEILL_CORNELL_DGM	ss1932053035	Feb 12, 2016 (147)
63	ILLUMINA	ss1946316852	Feb 12, 2016 (147)
64	ILLUMINA	ss1946316853	Feb 12, 2016 (147)
65	ILLUMINA	ss1959367511	Feb 12, 2016 (147)
66	ILLUMINA	ss1959367512	Feb 12, 2016 (147)
67	GENOMED	ss1967395361	Jul 19, 2016 (147)
68	JJLAB	ss2026770676	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2155082366	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2183714103	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2627859726	Nov 08, 2017 (151)
72	ILLUMINA	ss2632853531	Nov 08, 2017 (151)
73	GRF	ss2699378111	Nov 08, 2017 (151)
74	ILLUMINA	ss2710740444	Nov 08, 2017 (151)
75	GNOMAD	ss2739270289	Nov 08, 2017 (151)
76	GNOMAD	ss2748703883	Nov 08, 2017 (151)
77	GNOMAD	ss2901649434	Nov 08, 2017 (151)
78	AFFY	ss2984950812	Nov 08, 2017 (151)
79	SWEGEN	ss3008379552	Nov 08, 2017 (151)
80	ILLUMINA	ss3021355330	Nov 08, 2017 (151)
81	ILLUMINA	ss3021355331	Nov 08, 2017 (151)
82	EVA_SAMSUNG_MC	ss3023067015	Nov 08, 2017 (151)
83	BIOINF_KMB_FNS_UNIBA	ss3027182552	Nov 08, 2017 (151)
84	CSHL	ss3349676360	Nov 08, 2017 (151)
85	ILLUMINA	ss3625604540	Oct 12, 2018 (152)
86	ILLUMINA	ss3626695168	Oct 12, 2018 (152)
87	ILLUMINA	ss3626695169	Oct 12, 2018 (152)
88	ILLUMINA	ss3630869416	Oct 12, 2018 (152)
89	ILLUMINA	ss3632990810	Oct 12, 2018 (152)
90	ILLUMINA	ss3633690449	Oct 12, 2018 (152)
91	ILLUMINA	ss3634464356	Oct 12, 2018 (152)
92	ILLUMINA	ss3634464357	Oct 12, 2018 (152)
93	ILLUMINA	ss3635381943	Oct 12, 2018 (152)
94	ILLUMINA	ss3636147481	Oct 12, 2018 (152)
95	ILLUMINA	ss3637132818	Oct 12, 2018 (152)
96	ILLUMINA	ss3640171695	Oct 12, 2018 (152)
97	ILLUMINA	ss3640171696	Oct 12, 2018 (152)
98	ILLUMINA	ss3644569679	Oct 12, 2018 (152)
99	ILLUMINA	ss3644569680	Oct 12, 2018 (152)
100	OMUKHERJEE_ADBS	ss3646430482	Oct 12, 2018 (152)
101	URBANLAB	ss3649646538	Oct 12, 2018 (152)
102	ILLUMINA	ss3651721334	Oct 12, 2018 (152)
103	ILLUMINA	ss3651721335	Oct 12, 2018 (152)
104	ILLUMINA	ss3653722922	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3675699853	Jul 13, 2019 (153)
106	EVA_DECODE	ss3692123531	Jul 13, 2019 (153)
107	ILLUMINA	ss3725257442	Jul 13, 2019 (153)
108	ACPOP	ss3738322144	Jul 13, 2019 (153)
109	ILLUMINA	ss3744087134	Jul 13, 2019 (153)
110	ILLUMINA	ss3744385013	Jul 13, 2019 (153)
111	ILLUMINA	ss3744765203	Jul 13, 2019 (153)
112	ILLUMINA	ss3744765204	Jul 13, 2019 (153)
113	EVA	ss3749507513	Jul 13, 2019 (153)
114	PAGE_CC	ss3771637797	Jul 13, 2019 (153)
115	ILLUMINA	ss3772265011	Jul 13, 2019 (153)
116	ILLUMINA	ss3772265012	Jul 13, 2019 (153)
117	PACBIO	ss3786997297	Jul 13, 2019 (153)
118	PACBIO	ss3792131064	Jul 13, 2019 (153)
119	PACBIO	ss3797013415	Jul 13, 2019 (153)
120	KHV_HUMAN_GENOMES	ss3814841966	Jul 13, 2019 (153)
121	EVA	ss3824656584	Apr 26, 2020 (154)
122	EVA	ss3825527859	Apr 26, 2020 (154)
123	EVA	ss3825543251	Apr 26, 2020 (154)
124	EVA	ss3825805800	Apr 26, 2020 (154)
125	EVA	ss3832710683	Apr 26, 2020 (154)
126	EVA	ss3839914148	Apr 26, 2020 (154)
127	EVA	ss3845394425	Apr 26, 2020 (154)
128	SGDP_PRJ	ss3876617930	Apr 26, 2020 (154)
129	KRGDB	ss3925029069	Apr 26, 2020 (154)
130	KOGIC	ss3970282238	Apr 26, 2020 (154)
131	FSA-LAB	ss3984009792	Apr 26, 2021 (155)
132	EVA	ss3984653355	Apr 26, 2021 (155)
133	EVA	ss3984653356	Apr 26, 2021 (155)
134	EVA	ss3986056098	Apr 26, 2021 (155)
135	EVA	ss3986539131	Apr 26, 2021 (155)
136	EVA	ss4017546240	Apr 26, 2021 (155)
137	TOPMED	ss4891274137	Apr 26, 2021 (155)
138	TOMMO_GENOMICS	ss5202786792	Apr 26, 2021 (155)
139	EVA	ss5236898139	Apr 26, 2021 (155)
140	EVA	ss5237215973	Apr 26, 2021 (155)
141	EVA	ss5237658074	Oct 16, 2022 (156)
142	1000G_HIGH_COVERAGE	ss5288036583	Oct 16, 2022 (156)
143	TRAN_CS_UWATERLOO	ss5314432761	Oct 16, 2022 (156)
144	EVA	ss5315557103	Oct 16, 2022 (156)
145	EVA	ss5400675119	Oct 16, 2022 (156)
146	HUGCELL_USP	ss5483129986	Oct 16, 2022 (156)
147	EVA	ss5510419574	Oct 16, 2022 (156)
148	1000G_HIGH_COVERAGE	ss5584059798	Oct 16, 2022 (156)
149	EVA	ss5623954651	Oct 16, 2022 (156)
150	EVA	ss5624023964	Oct 16, 2022 (156)
151	SANFORD_IMAGENETICS	ss5651565852	Oct 16, 2022 (156)
152	TOMMO_GENOMICS	ss5750923746	Oct 16, 2022 (156)
153	EVA	ss5799847093	Oct 16, 2022 (156)
154	EVA	ss5800063716	Oct 16, 2022 (156)
155	EVA	ss5800170515	Oct 16, 2022 (156)
156	YY_MCH	ss5812564376	Oct 16, 2022 (156)
157	EVA	ss5836892415	Oct 16, 2022 (156)
158	EVA	ss5847640512	Oct 16, 2022 (156)
159	EVA	ss5848333162	Oct 16, 2022 (156)
160	EVA	ss5850044563	Oct 16, 2022 (156)
161	EVA	ss5920664573	Oct 16, 2022 (156)
162	EVA	ss5936550023	Oct 16, 2022 (156)
163	EVA	ss5942879607	Oct 16, 2022 (156)
164	EVA	ss5980690278	Oct 16, 2022 (156)
165	EVA	ss5981270025	Oct 16, 2022 (156)
166	1000Genomes	NC_000011.9 - 76912636	Oct 12, 2018 (152)
167	1000Genomes_30x	NC_000011.10 - 77201591	Oct 16, 2022 (156)
168	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 76912636	Oct 12, 2018 (152)
169	Genetic variation in the Estonian population	NC_000011.9 - 76912636	Oct 12, 2018 (152)
170	ExAC	NC_000011.9 - 76912636	Oct 12, 2018 (152)
171	FINRISK	NC_000011.9 - 76912636	Apr 26, 2020 (154)
172	The Danish reference pan genome	NC_000011.9 - 76912636	Apr 26, 2020 (154)
173	gnomAD - Genomes	NC_000011.10 - 77201591	Apr 26, 2021 (155)
174	gnomAD - Exomes	NC_000011.9 - 76912636	Jul 13, 2019 (153)
175	GO Exome Sequencing Project	NC_000011.9 - 76912636	Oct 12, 2018 (152)
176	Genome of the Netherlands Release 5	NC_000011.9 - 76912636	Apr 26, 2020 (154)
177	KOREAN population from KRGDB	NC_000011.9 - 76912636	Apr 26, 2020 (154)
178	Korean Genome Project	NC_000011.10 - 77201591	Apr 26, 2020 (154)
179	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 76912636	Apr 26, 2020 (154)
180	Northern Sweden	NC_000011.9 - 76912636	Jul 13, 2019 (153)
181	The PAGE Study	NC_000011.10 - 77201591	Jul 13, 2019 (153)
182	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 202835 (NC_000011.9:76912635:A:T 392/788) Row 202836 (NC_000011.9:76912635:A:T 392/790)	-	Apr 26, 2021 (155)
183	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 202835 (NC_000011.9:76912635:A:T 392/788) Row 202836 (NC_000011.9:76912635:A:T 392/790)	-	Apr 26, 2021 (155)
184	Qatari	NC_000011.9 - 76912636	Apr 26, 2020 (154)
185	SGDP_PRJ	NC_000011.9 - 76912636	Apr 26, 2020 (154)
186	Siberian	NC_000011.9 - 76912636	Apr 26, 2020 (154)
187	8.3KJPN	NC_000011.9 - 76912636	Apr 26, 2021 (155)
188	14KJPN	NC_000011.10 - 77201591	Oct 16, 2022 (156)
189	TopMed	NC_000011.10 - 77201591	Apr 26, 2021 (155)
190	UK 10K study - Twins	NC_000011.9 - 76912636	Oct 12, 2018 (152)
191	A Vietnamese Genetic Variation Database	NC_000011.9 - 76912636	Jul 13, 2019 (153)
192	ALFA	NC_000011.10 - 77201591	Apr 26, 2021 (155)
193	ClinVar	RCV000036174.8	Oct 16, 2022 (156)
194	ClinVar	RCV000294774.5	Oct 16, 2022 (156)
195	ClinVar	RCV000335830.5	Oct 16, 2022 (156)
196	ClinVar	RCV000389186.5	Oct 16, 2022 (156)
197	ClinVar	RCV001273505.1	Apr 26, 2021 (155)
198	ClinVar	RCV001512276.5	Oct 16, 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)
rs57060436	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77452121, ss85293769, ss85443209, ss110685457, ss114818215, ss119902978, ss160526411, ss168591827, ss170308051, ss175193033, ss202904529, ss207885336, ss281072675, ss291076630, ss480499858, ss491651148, ss1598358496	NC_000011.8:76590283:A:T	NC_000011.10:77201590:A:T	(self)
54515030, 30257551, 21438101, 829017, 73530, 2630619, 8486489, 1114146, 13500222, 32206463, 418820, 11607009, 14094965, 28634910, 7598720, 60756099, 30257551, 6711357, ss225324809, ss235619039, ss242239669, ss480514234, ss481319978, ss485047438, ss491456572, ss537067214, ss562665000, ss658179597, ss713038570, ss778719018, ss780902006, ss782969937, ss783589175, ss783931557, ss832226247, ss834178394, ss974480503, ss988697296, ss1067526676, ss1077848753, ss1341969102, ss1426681595, ss1575802638, ss1584077069, ss1626938524, ss1669932557, ss1690559531, ss1711303060, ss1752033092, ss1752033093, ss1806885880, ss1917864221, ss1932053035, ss1946316852, ss1946316853, ss1959367511, ss1959367512, ss1967395361, ss2026770676, ss2155082366, ss2627859726, ss2632853531, ss2699378111, ss2710740444, ss2739270289, ss2748703883, ss2901649434, ss2984950812, ss3008379552, ss3021355330, ss3021355331, ss3023067015, ss3349676360, ss3625604540, ss3626695168, ss3626695169, ss3630869416, ss3632990810, ss3633690449, ss3634464356, ss3634464357, ss3635381943, ss3636147481, ss3637132818, ss3640171695, ss3640171696, ss3644569679, ss3644569680, ss3646430482, ss3651721334, ss3651721335, ss3653722922, ss3675699853, ss3738322144, ss3744087134, ss3744385013, ss3744765203, ss3744765204, ss3749507513, ss3772265011, ss3772265012, ss3786997297, ss3792131064, ss3797013415, ss3824656584, ss3825527859, ss3825543251, ss3825805800, ss3832710683, ss3839914148, ss3876617930, ss3925029069, ss3984009792, ss3984653355, ss3984653356, ss3986056098, ss3986539131, ss4017546240, ss5202786792, ss5315557103, ss5400675119, ss5510419574, ss5623954651, ss5624023964, ss5651565852, ss5799847093, ss5800063716, ss5800170515, ss5836892415, ss5847640512, ss5848333162, ss5936550023, ss5942879607, ss5980690278, ss5981270025	NC_000011.9:76912635:A:T	NC_000011.10:77201590:A:T	(self)
RCV000036174.8, RCV000294774.5, RCV000335830.5, RCV000389186.5, RCV001273505.1, RCV001512276.5, 71585733, 384789111, 26660239, 859266, 84760850, 106819793, 6437595741, ss2183714103, ss3027182552, ss3649646538, ss3692123531, ss3725257442, ss3771637797, ss3814841966, ss3845394425, ss3970282238, ss4891274137, ss5236898139, ss5237215973, ss5237658074, ss5288036583, ss5314432761, ss5483129986, ss5584059798, ss5750923746, ss5812564376, ss5850044563, ss5920664573	NC_000011.10:77201590:A:T	NC_000011.10:77201590:A:T	(self)
ss15917184, ss20789519	NT_033927.6:7111664:A:T	NC_000011.10:77201590:A:T	(self)
ss3212732, ss38710792, ss65844235, ss71648461, ss76872777, ss97399249, ss106753405, ss132029954	NT_167190.1:22218430:A:T	NC_000011.10:77201590:A:T	(self)

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

6 citations for rs2276288

PMID	Title	Author	Year	Journal
19320733	Pigmentation-related genes and their implication in malignant melanoma susceptibility.	Fernandez LP et al.	2009	Experimental dermatology
20158590	Predicting phenotype from genotype: normal pigmentation.	Valenzuela RK et al.	2010	Journal of forensic sciences
22483387	Pilot candidate gene analysis of patients ≥ 60 years old with aortic stenosis involving a tricuspid aortic valve.	Ellis SG et al.	2012	The American journal of cardiology
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24903972	Genetic predisposition to calcific aortic stenosis and mitral annular calcification.	Kutikhin AG et al.	2014	Molecular biology reports
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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).
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

rs2276288