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rs748573754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one Krabbe disease allele
(T;T) 6 Krabbe disease (likely)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position87945566
GeneGALC
is asnp
is mentioned by
dbSNPrs748573754
ebirs748573754
HLIrs748573754
Exacrs748573754
Varsomers748573754
Maprs748573754
PheGenIrs748573754
hapmaprs748573754
1000 genomesrs748573754
hgdprs748573754
ensemblrs748573754
gopubmedrs748573754
geneviewrs748573754
scholarrs748573754
googlers748573754
pharmgkbrs748573754
gwascentralrs748573754
openSNPrs748573754
23andMers748573754
23andMe allrs748573754
SNP Nexus

SNPshotrs748573754
SNPdbers748573754
MSV3drs748573754
GWAS Ctlgrs748573754
Max Magnitude6

aka c.1657G>A, p.Gly553Arg

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

ClinVar
Risk rs748573754(T;T)
Alt rs748573754(T;T)
Reference rs748573754(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.88411910C>T
CLNSRC
CLNACC RCV000169525.1,