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

rs121908010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier for one Krabbe disease allele
(T;T) 6 Krabbe disease (likely)
ReferenceGRCh38 38.1/141
Chromosome14
Position87963392
GeneGALC
is asnp
is mentioned by
dbSNPrs121908010
ebirs121908010
HLIrs121908010
Exacrs121908010
Varsomers121908010
Maprs121908010
PheGenIrs121908010
hapmaprs121908010
1000 genomesrs121908010
hgdprs121908010
ensemblrs121908010
gopubmedrs121908010
geneviewrs121908010
scholarrs121908010
googlers121908010
pharmgkbrs121908010
gwascentralrs121908010
openSNPrs121908010
23andMers121908010
23andMe allrs121908010
SNP Nexus

SNPshotrs121908010
SNPdbers121908010
MSV3drs121908010
GWAS Ctlgrs121908010
Max Magnitude6

aka c.1153G>T, p.Glu385Ter

Identified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)

OMIM606890
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908010(T;T)
Alt rs121908010(T;T)
Reference rs121908010(G;G)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88429736C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004022.2,