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rs775277935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775277935(-;-)
Make rs775277935(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87986501
GeneGALC
is asnp
is mentioned by
dbSNPrs775277935
dbSNP (old)rs775277935
ClinGenrs775277935
ebirs775277935
HLIrs775277935
Exacrs775277935
Gnomadrs775277935
Varsomers775277935
Maprs775277935
PheGenIrs775277935
Biobankrs775277935
1000 genomesrs775277935
hgdprs775277935
ensemblrs775277935
gopubmedrs775277935
geneviewrs775277935
scholarrs775277935
googlers775277935
pharmgkbrs775277935
gwascentralrs775277935
openSNPrs775277935
23andMers775277935
23andMe allrs775277935
SNP Nexus

SNPshotrs775277935
SNPdbers775277935
MSV3drs775277935
GWAS Ctlgrs775277935
Max Magnitude0
ClinVar
Risk rs775277935(-;-)
Alt rs775277935(-;-)
Reference Rs775277935(T;T)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency not provided
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency not provided
Reversed 0
HGVS NC_000014.8:g.88452845delT
CLNSRC
CLNACC RCV000178046.1, RCV000255375.1,