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rs749893889

From SNPedia

Orientationplus
Stabilizedplus
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.p2 38.2/144
Chromosome14
Position87945632
GeneGALC
is asnp
is mentioned by
dbSNPrs749893889
ebirs749893889
HLIrs749893889
Exacrs749893889
Varsomers749893889
Maprs749893889
PheGenIrs749893889
hapmaprs749893889
1000 genomesrs749893889
hgdprs749893889
ensemblrs749893889
gopubmedrs749893889
geneviewrs749893889
scholarrs749893889
googlers749893889
pharmgkbrs749893889
gwascentralrs749893889
openSNPrs749893889
23andMers749893889
23andMe allrs749893889
SNP Nexus

SNPshotrs749893889
SNPdbers749893889
MSV3drs749893889
GWAS Ctlgrs749893889
Max Magnitude6

aka c.1591C>T, p.Arg531Cys

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

ClinVar
Risk rs749893889(A;A)
Alt rs749893889(A;A)
Reference rs749893889(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88411976G>A
CLNSRC
CLNACC RCV000169377.1,