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rs387906952

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
Position87945593
GeneGALC
is asnp
is mentioned by
dbSNPrs387906952
ebirs387906952
HLIrs387906952
Exacrs387906952
Varsomers387906952
Maprs387906952
PheGenIrs387906952
hapmaprs387906952
1000 genomesrs387906952
hgdprs387906952
ensemblrs387906952
gopubmedrs387906952
geneviewrs387906952
scholarrs387906952
googlers387906952
pharmgkbrs387906952
gwascentralrs387906952
openSNPrs387906952
23andMers387906952
23andMe allrs387906952
SNP Nexus

SNPshotrs387906952
SNPdbers387906952
MSV3drs387906952
GWAS Ctlgrs387906952
Max Magnitude6

aka c.1630G>A, p.Asp544Asn

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

ClinVar
Risk rs387906952(A;A)
Alt rs387906952(A;A)
Reference rs387906952(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.88411937C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023588.2,