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rs782607566

From SNPedia

Orientationplus
Stabilizedplus
Make rs782607566(A;A)
Make rs782607566(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position77162917
GeneMYO7A
is asnp
is mentioned by
dbSNPrs782607566
dbSNP (classic)rs782607566
ClinGenrs782607566
ebirs782607566
HLIrs782607566
Exacrs782607566
Gnomadrs782607566
Varsomers782607566
LitVarrs782607566
Maprs782607566
PheGenIrs782607566
Biobankrs782607566
1000 genomesrs782607566
hgdprs782607566
ensemblrs782607566
geneviewrs782607566
scholarrs782607566
googlers782607566
pharmgkbrs782607566
gwascentralrs782607566
openSNPrs782607566
23andMers782607566
SNPshotrs782607566
SNPdbers782607566
MSV3drs782607566
GWAS Ctlgrs782607566
Max Magnitude0
ClinVar
Risk rs782607566(A;A)
Alt rs782607566(A;A)
Reference Rs782607566(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1 Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant
Reversed 0
HGVS NC_000011.9:g.76873963C>A
CLNSRC
CLNACC RCV000222836.1, RCV000308007.1, RCV000344299.1, RCV000394833.1,