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rs121965079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965079(C;T)
Make rs121965079(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156069
GeneMYO7A
is asnp
is mentioned by
dbSNPrs121965079
dbSNP (classic)rs121965079
ClinGenrs121965079
ebirs121965079
HLIrs121965079
Exacrs121965079
Gnomadrs121965079
Varsomers121965079
LitVarrs121965079
Maprs121965079
PheGenIrs121965079
Biobankrs121965079
1000 genomesrs121965079
hgdprs121965079
ensemblrs121965079
geneviewrs121965079
scholarrs121965079
googlers121965079
pharmgkbrs121965079
gwascentralrs121965079
openSNPrs121965079
23andMers121965079
SNPshotrs121965079
SNPdbers121965079
MSV3drs121965079
GWAS Ctlgrs121965079
Max Magnitude0
OMIM276903
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121965079(A;A) rs121965079(T;T)
Alt rs121965079(A;A) rs121965079(T;T)
Reference Rs121965079(C;C)
Significance Pathogenic
Disease not specified not provided Usher syndrome Usher syndrome
Variation info
Gene MYO7A
CLNDBN not specified not provided Usher syndrome, type 1B Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76867115C>A; NC_000011.9:g.76867115C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000155223.2, RCV000487904.1, RCV000012621.25, RCV000036148.2,