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rs121965082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965082(A;A)
Make rs121965082(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77166162
GeneMYO7A
is asnp
is mentioned by
dbSNPrs121965082
dbSNP (classic)rs121965082
ClinGenrs121965082
ebirs121965082
HLIrs121965082
Exacrs121965082
Gnomadrs121965082
Varsomers121965082
LitVarrs121965082
Maprs121965082
PheGenIrs121965082
Biobankrs121965082
1000 genomesrs121965082
hgdprs121965082
ensemblrs121965082
geneviewrs121965082
scholarrs121965082
googlers121965082
pharmgkbrs121965082
gwascentralrs121965082
openSNPrs121965082
23andMers121965082
SNPshotrs121965082
SNPdbers121965082
MSV3drs121965082
GWAS Ctlgrs121965082
Max Magnitude0
OMIM276903
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121965082(A;A)
Alt rs121965082(A;A)
Reference Rs121965082(G;G)
Significance Pathogenic
Disease Deafness Usher syndrome
Variation info
Gene MYO7A
CLNDBN Deafness, autosomal recessive 2 Usher syndrome, type 1B
Reversed 0
HGVS NC_000011.9:g.76877208G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012630.17, RCV000012631.25,