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rs374635469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one Krabbe disease associated allele
(T;T) 6 Krabbe disease
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position87986543
GeneGALC
is asnp
is mentioned by
dbSNPrs374635469
ebirs374635469
HLIrs374635469
Exacrs374635469
Varsomers374635469
Maprs374635469
PheGenIrs374635469
hapmaprs374635469
1000 genomesrs374635469
hgdprs374635469
ensemblrs374635469
gopubmedrs374635469
geneviewrs374635469
scholarrs374635469
googlers374635469
pharmgkbrs374635469
gwascentralrs374635469
openSNPrs374635469
23andMers374635469
23andMe allrs374635469
SNP Nexus

SNPshotrs374635469
SNPdbers374635469
MSV3drs374635469
GWAS Ctlgrs374635469
Max Magnitude6

aka c.388G>A, p.Glu130Lys

ClinVar indicates as "probably pathogenic" for Krabbe disease

ClinVar
Risk rs374635469(G,T;G,T)
Alt rs374635469(G,T;G,T)
Reference rs374635469(C;C)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88452887C>T
CLNSRC
CLNACC RCV000169155.1,