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rs766413410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766413410(C;T)
Make rs766413410(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position141615468
GeneAGK
is asnp
is mentioned by
dbSNPrs766413410
dbSNP (classic)rs766413410
ClinGenrs766413410
ebirs766413410
HLIrs766413410
Exacrs766413410
Gnomadrs766413410
Varsomers766413410
LitVarrs766413410
Maprs766413410
PheGenIrs766413410
Biobankrs766413410
1000 genomesrs766413410
hgdprs766413410
ensemblrs766413410
geneviewrs766413410
scholarrs766413410
googlers766413410
pharmgkbrs766413410
gwascentralrs766413410
openSNPrs766413410
23andMers766413410
SNPshotrs766413410
SNPdbers766413410
MSV3drs766413410
GWAS Ctlgrs766413410
Max Magnitude0
ClinVar
Risk rs766413410(A;A) rs766413410(G;G) rs766413410(T;T)
Alt rs766413410(A;A) rs766413410(G;G) rs766413410(T;T)
Reference Rs766413410(C;C)
Significance Pathogenic
Disease Cataract Cataract and cardiomyopathy
Variation info
Gene AGK
CLNDBN Cataract, autosomal recessive congenital 5 Cataract and cardiomyopathy
Reversed 0
HGVS NC_000007.13:g.141315268C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024610.4, RCV000191058.1,