Have questions? Visit https://www.reddit.com/r/SNPedia

rs779701490

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779701490(A;A)
Make rs779701490(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87988143
GeneGALC
is asnp
is mentioned by
dbSNPrs779701490
dbSNP (old)rs779701490
ClinGenrs779701490
ebirs779701490
HLIrs779701490
Exacrs779701490
Gnomadrs779701490
Varsomers779701490
Maprs779701490
PheGenIrs779701490
Biobankrs779701490
1000 genomesrs779701490
hgdprs779701490
ensemblrs779701490
gopubmedrs779701490
geneviewrs779701490
scholarrs779701490
googlers779701490
pharmgkbrs779701490
gwascentralrs779701490
openSNPrs779701490
23andMers779701490
23andMe allrs779701490
SNP Nexus

SNPshotrs779701490
SNPdbers779701490
MSV3drs779701490
GWAS Ctlgrs779701490
Max Magnitude0
ClinVar
Risk rs779701490(A;A)
Alt rs779701490(A;A)
Reference Rs779701490(C;C)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88454487C>A
CLNSRC
CLNACC RCV000409516.1,