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rs794727116

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727116(A;A)
Make rs794727116(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87945680
GeneGALC
is asnp
is mentioned by
dbSNPrs794727116
ebirs794727116
HLIrs794727116
Exacrs794727116
Varsomers794727116
Maprs794727116
PheGenIrs794727116
hapmaprs794727116
1000 genomesrs794727116
hgdprs794727116
ensemblrs794727116
gopubmedrs794727116
geneviewrs794727116
scholarrs794727116
googlers794727116
pharmgkbrs794727116
gwascentralrs794727116
openSNPrs794727116
23andMers794727116
23andMe allrs794727116
SNP Nexus

SNPshotrs794727116
SNPdbers794727116
MSV3drs794727116
GWAS Ctlgrs794727116
Max Magnitude0
ClinVar
Risk rs794727116(A;A)
Alt rs794727116(A;A)
Reference rs794727116(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88412024C>T
CLNSRC
CLNACC RCV000174663.1,