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rs387906953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 6 Krabbe disease (likely)
(G;T) 3 carrier of one Krabbe disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position87941433
GeneGALC
is asnp
is mentioned by
dbSNPrs387906953
ebirs387906953
HLIrs387906953
Exacrs387906953
Varsomers387906953
Maprs387906953
PheGenIrs387906953
hapmaprs387906953
1000 genomesrs387906953
hgdprs387906953
ensemblrs387906953
gopubmedrs387906953
geneviewrs387906953
scholarrs387906953
googlers387906953
pharmgkbrs387906953
gwascentralrs387906953
openSNPrs387906953
23andMers387906953
23andMe allrs387906953
SNP Nexus

SNPshotrs387906953
SNPdbers387906953
MSV3drs387906953
GWAS Ctlgrs387906953
Max Magnitude6

aka c.1796T>G, p.Ile599Ser

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

ClinVar
Risk rs387906953(G;G)
Alt rs387906953(G;G)
Reference rs387906953(T;T)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88407777A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023589.2,