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rs398123175

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
Position87963382
GeneGALC
is asnp
is mentioned by
dbSNPrs398123175
ebirs398123175
HLIrs398123175
Exacrs398123175
Varsomers398123175
Maprs398123175
PheGenIrs398123175
hapmaprs398123175
1000 genomesrs398123175
hgdprs398123175
ensemblrs398123175
gopubmedrs398123175
geneviewrs398123175
scholarrs398123175
googlers398123175
pharmgkbrs398123175
gwascentralrs398123175
openSNPrs398123175
23andMers398123175
23andMe allrs398123175
SNP Nexus

SNPshotrs398123175
SNPdbers398123175
MSV3drs398123175
GWAS Ctlgrs398123175
Max Magnitude6

aka c.1161+2T>G

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

ClinVar
Risk rs398123175(G;G)
Alt rs398123175(G;G)
Reference rs398123175(T;T)
Significance 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.88429726A>C
CLNSRC ClinVar
CLNACC RCV000078189.3, RCV000173647.1,