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rs121965080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965080(C;T)
Make rs121965080(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156903
GeneMYO7A
is asnp
is mentioned by
dbSNPrs121965080
dbSNP (classic)rs121965080
ClinGenrs121965080
ebirs121965080
HLIrs121965080
Exacrs121965080
Gnomadrs121965080
Varsomers121965080
LitVarrs121965080
Maprs121965080
PheGenIrs121965080
Biobankrs121965080
1000 genomesrs121965080
hgdprs121965080
ensemblrs121965080
geneviewrs121965080
scholarrs121965080
googlers121965080
pharmgkbrs121965080
gwascentralrs121965080
openSNPrs121965080
23andMers121965080
SNPshotrs121965080
SNPdbers121965080
MSV3drs121965080
GWAS Ctlgrs121965080
Max Magnitude0
OMIM276903
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121965080(T;T)
Alt rs121965080(T;T)
Reference Rs121965080(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B
Reversed 0
HGVS NC_000011.9:g.76867949C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012625.17,