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rs398123177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 6 Krabbe disease (likely)
(C;T) 3 carrier of one Krabbe disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position87968381
GeneGALC
is asnp
is mentioned by
dbSNPrs398123177
ebirs398123177
HLIrs398123177
Exacrs398123177
Varsomers398123177
Maprs398123177
PheGenIrs398123177
hapmaprs398123177
1000 genomesrs398123177
hgdprs398123177
ensemblrs398123177
gopubmedrs398123177
geneviewrs398123177
scholarrs398123177
googlers398123177
pharmgkbrs398123177
gwascentralrs398123177
openSNPrs398123177
23andMers398123177
23andMe allrs398123177
SNP Nexus

SNPshotrs398123177
SNPdbers398123177
MSV3drs398123177
GWAS Ctlgrs398123177
Max Magnitude6

aka c.862T>C, p.Trp288Arg

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

ClinVar
Risk rs398123177(C;C)
Alt rs398123177(C;C)
Reference rs398123177(T;T)
Significance Probable-Pathogenic
Disease not provided Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN not provided Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88434725A>G
CLNSRC ClinVar Emory University
CLNACC RCV000078208.3, RCV000180100.1,