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rs776368825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776368825(A;A)
Make rs776368825(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87965592
GeneGALC
is asnp
is mentioned by
dbSNPrs776368825
dbSNP (classic)rs776368825
ClinGenrs776368825
ebirs776368825
HLIrs776368825
Exacrs776368825
Gnomadrs776368825
Varsomers776368825
LitVarrs776368825
Maprs776368825
PheGenIrs776368825
Biobankrs776368825
1000 genomesrs776368825
hgdprs776368825
ensemblrs776368825
geneviewrs776368825
scholarrs776368825
googlers776368825
pharmgkbrs776368825
gwascentralrs776368825
openSNPrs776368825
23andMers776368825
SNPshotrs776368825
SNPdbers776368825
MSV3drs776368825
GWAS Ctlgrs776368825
Max Magnitude0
ClinVar
Risk rs776368825(A;A) rs776368825(T;T)
Alt rs776368825(A;A) rs776368825(T;T)
Reference Rs776368825(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88431936G>A
CLNSRC
CLNACC RCV000411117.1,