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rs797044512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044512(C;T)
Make rs797044512(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position77156958
GeneMYO7A
is asnp
is mentioned by
dbSNPrs797044512
dbSNP (classic)rs797044512
ClinGenrs797044512
ebirs797044512
HLIrs797044512
Exacrs797044512
Gnomadrs797044512
Varsomers797044512
LitVarrs797044512
Maprs797044512
PheGenIrs797044512
Biobankrs797044512
1000 genomesrs797044512
hgdprs797044512
ensemblrs797044512
geneviewrs797044512
scholarrs797044512
googlers797044512
pharmgkbrs797044512
gwascentralrs797044512
openSNPrs797044512
23andMers797044512
SNPshotrs797044512
SNPdbers797044512
MSV3drs797044512
GWAS Ctlgrs797044512
Max Magnitude0
ClinVar
Risk rs797044512(T;T)
Alt rs797044512(T;T)
Reference Rs797044512(C;C)
Significance Pathogenic
Disease Usher syndrome Deafness
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1 Deafness, autosomal dominant 11
Reversed 0
HGVS NC_000011.9:g.76868004C>T
CLNSRC
CLNACC RCV000155771.1, RCV000225087.1,