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rs750524447

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
Position87968334
GeneGALC
is asnp
is mentioned by
dbSNPrs750524447
ebirs750524447
HLIrs750524447
Exacrs750524447
Varsomers750524447
Maprs750524447
PheGenIrs750524447
hapmaprs750524447
1000 genomesrs750524447
hgdprs750524447
ensemblrs750524447
gopubmedrs750524447
geneviewrs750524447
scholarrs750524447
googlers750524447
pharmgkbrs750524447
gwascentralrs750524447
openSNPrs750524447
23andMers750524447
23andMe allrs750524447
SNP Nexus

SNPshotrs750524447
SNPdbers750524447
MSV3drs750524447
GWAS Ctlgrs750524447
Max Magnitude6

aka c.908+1G>A

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

ClinVar
Risk rs750524447(T;T)
Alt rs750524447(T;T)
Reference rs750524447(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.88434678C>T
CLNSRC
CLNACC RCV000169153.1,