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rs35689081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35689081(C;T)
Make rs35689081(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77142783
GeneMYO7A
is asnp
is mentioned by
dbSNPrs35689081
dbSNP (classic)rs35689081
ClinGenrs35689081
ebirs35689081
HLIrs35689081
Exacrs35689081
Gnomadrs35689081
Varsomers35689081
LitVarrs35689081
Maprs35689081
PheGenIrs35689081
Biobankrs35689081
1000 genomesrs35689081
hgdprs35689081
ensemblrs35689081
geneviewrs35689081
scholarrs35689081
googlers35689081
pharmgkbrs35689081
gwascentralrs35689081
openSNPrs35689081
23andMers35689081
SNPshotrs35689081
SNPdbers35689081
MSV3drs35689081
GWAS Ctlgrs35689081
GMAF0.01469
Max Magnitude0
OMIM276903
Desc
Variant0013
Relatedalso


ClinVar
Risk rs35689081(A;A) rs35689081(T;T)
Alt rs35689081(A;A) rs35689081(T;T)
Reference Rs35689081(C;C)
Significance Pathogenic
Disease Usher syndrome Usher syndrome not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B Usher syndrome, type 1 not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive
Reversed 0
HGVS NC_000011.9:g.76853829C>A; NC_000011.9:g.76853829C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012634.27, RCV000154341.1, RCV000036252.3, RCV000273950.1, RCV000331379.1, RCV000357024.1,