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rs761550284

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
Position87984487
GeneGALC
is asnp
is mentioned by
dbSNPrs761550284
ebirs761550284
HLIrs761550284
Exacrs761550284
Varsomers761550284
Maprs761550284
PheGenIrs761550284
hapmaprs761550284
1000 genomesrs761550284
hgdprs761550284
ensemblrs761550284
gopubmedrs761550284
geneviewrs761550284
scholarrs761550284
googlers761550284
pharmgkbrs761550284
gwascentralrs761550284
openSNPrs761550284
23andMers761550284
23andMe allrs761550284
SNP Nexus

SNPshotrs761550284
SNPdbers761550284
MSV3drs761550284
GWAS Ctlgrs761550284
Max Magnitude6

aka c.489G>A, p.Trp163Ter

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

ClinVar
Risk rs761550284(T;T)
Alt rs761550284(T;T)
Reference rs761550284(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.88450831C>T
CLNSRC
CLNACC RCV000169212.1,