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

rs886042057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome14
Position87992970
GeneGALC
is asnp
is mentioned by
dbSNPrs886042057
dbSNP (classic)rs886042057
ClinGenrs886042057
ebirs886042057
HLIrs886042057
Exacrs886042057
Gnomadrs886042057
Varsomers886042057
LitVarrs886042057
Maprs886042057
PheGenIrs886042057
Biobankrs886042057
1000 genomesrs886042057
hgdprs886042057
ensemblrs886042057
geneviewrs886042057
scholarrs886042057
googlers886042057
pharmgkbrs886042057
gwascentralrs886042057
openSNPrs886042057
23andMers886042057
SNPshotrs886042057
SNPdbers886042057
MSV3drs886042057
GWAS Ctlgrs886042057
Max Magnitude0
ClinVar
Risk rs886042057(G;G)
Alt rs886042057(G;G)
Reference Rs886042057(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.88459314C>G
CLNSRC
CLNACC RCV000400667.1,