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rs869312181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312181(G;G)
Make rs869312181(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position77192241
GeneMYO7A
is asnp
is mentioned by
dbSNPrs869312181
dbSNP (classic)rs869312181
ClinGenrs869312181
ebirs869312181
HLIrs869312181
Exacrs869312181
Gnomadrs869312181
Varsomers869312181
LitVarrs869312181
Maprs869312181
PheGenIrs869312181
Biobankrs869312181
1000 genomesrs869312181
hgdprs869312181
ensemblrs869312181
geneviewrs869312181
scholarrs869312181
googlers869312181
pharmgkbrs869312181
gwascentralrs869312181
openSNPrs869312181
23andMers869312181
SNPshotrs869312181
SNPdbers869312181
MSV3drs869312181
GWAS Ctlgrs869312181
Max Magnitude0
ClinVar
Risk rs869312181(G;G)
Alt rs869312181(G;G)
Reference Rs869312181(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome Retinal dystrophy
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1 Retinal dystrophy
Reversed 0
HGVS NC_000011.9:g.76903286T>G
CLNSRC
CLNACC RCV000210299.1, RCV000225646.1,