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rs387906954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of one Krabbe disease allele
(G;G) 6 Krabbe disease (likely)
ReferenceGRCh38 38.1/141
Chromosome14
Position87965585
GeneGALC
is asnp
is mentioned by
dbSNPrs387906954
ebirs387906954
HLIrs387906954
Exacrs387906954
Varsomers387906954
Maprs387906954
PheGenIrs387906954
hapmaprs387906954
1000 genomesrs387906954
hgdprs387906954
ensemblrs387906954
gopubmedrs387906954
geneviewrs387906954
scholarrs387906954
googlers387906954
pharmgkbrs387906954
gwascentralrs387906954
openSNPrs387906954
23andMers387906954
23andMe allrs387906954
SNP Nexus

SNPshotrs387906954
SNPdbers387906954
MSV3drs387906954
GWAS Ctlgrs387906954
Max Magnitude6

aka c.953C>G, p.Pro318Arg

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

ClinVar
Risk rs387906954(G;G)
Alt rs387906954(G;G)
Reference rs387906954(C;C)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88431929G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023594.2,