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rs387906955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Krabbe disease (likely)
(A;G) 3 carrier of one Krabbe disease allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position87993044
GeneGALC
is asnp
is mentioned by
dbSNPrs387906955
ebirs387906955
HLIrs387906955
Exacrs387906955
Varsomers387906955
Maprs387906955
PheGenIrs387906955
hapmaprs387906955
1000 genomesrs387906955
hgdprs387906955
ensemblrs387906955
gopubmedrs387906955
geneviewrs387906955
scholarrs387906955
googlers387906955
pharmgkbrs387906955
gwascentralrs387906955
openSNPrs387906955
23andMers387906955
23andMe allrs387906955
SNP Nexus

SNPshotrs387906955
SNPdbers387906955
MSV3drs387906955
GWAS Ctlgrs387906955
Max Magnitude6

aka c.121G>A, p.Gly41Ser

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

ClinVar
Risk rs387906955(A;A)
Alt rs387906955(A;A)
Reference rs387906955(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.88459388C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023595.2,