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rs199847983

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 38.1/141
Chromosome14
Position87968386
GeneGALC
is asnp
is mentioned by
dbSNPrs199847983
ebirs199847983
HLIrs199847983
Exacrs199847983
Varsomers199847983
Maprs199847983
PheGenIrs199847983
hapmaprs199847983
1000 genomesrs199847983
hgdprs199847983
ensemblrs199847983
gopubmedrs199847983
geneviewrs199847983
scholarrs199847983
googlers199847983
pharmgkbrs199847983
gwascentralrs199847983
openSNPrs199847983
23andMers199847983
23andMe allrs199847983
SNP Nexus

SNPshotrs199847983
SNPdbers199847983
MSV3drs199847983
GWAS Ctlgrs199847983
Max Magnitude6

aka c.857G>A, p.Gly286Asp

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

ClinVar
Risk rs199847983(T;T)
Alt rs199847983(T;T)
Reference rs199847983(C;C)
Significance Other
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88434730C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023593.4,