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rs387907024

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907024(C;T)
Make rs387907024(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position141615564
GeneAGK
is asnp
is mentioned by
dbSNPrs387907024
ebirs387907024
HLIrs387907024
Exacrs387907024
Varsomers387907024
Maprs387907024
PheGenIrs387907024
hapmaprs387907024
1000 genomesrs387907024
hgdprs387907024
ensemblrs387907024
gopubmedrs387907024
geneviewrs387907024
scholarrs387907024
googlers387907024
pharmgkbrs387907024
gwascentralrs387907024
openSNPrs387907024
23andMers387907024
23andMe allrs387907024
SNP Nexus

SNPshotrs387907024
SNPdbers387907024
MSV3drs387907024
GWAS Ctlgrs387907024
Max Magnitude0
ClinVar
Risk rs387907024(T;T)
Alt rs387907024(T;T)
Reference rs387907024(C;C)
Significance Pathogenic
Disease Cataract and cardiomyopathy
Variation info
Gene AGK
CLNDBN Cataract and cardiomyopathy
Reversed 0
HGVS NC_000007.13:g.141315364C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023812.3,