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rs147313927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147313927(C;C)
Make rs147313927(C;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position87986597
GeneGALC
is asnp
is mentioned by
dbSNPrs147313927
ebirs147313927
HLIrs147313927
Exacrs147313927
Varsomers147313927
Maprs147313927
PheGenIrs147313927
hapmaprs147313927
1000 genomesrs147313927
hgdprs147313927
ensemblrs147313927
gopubmedrs147313927
geneviewrs147313927
scholarrs147313927
googlers147313927
pharmgkbrs147313927
gwascentralrs147313927
openSNPrs147313927
23andMers147313927
23andMe allrs147313927
SNP Nexus

SNPshotrs147313927
SNPdbers147313927
MSV3drs147313927
GWAS Ctlgrs147313927
Max Magnitude0

c.334A>G, p.Thr112Ala

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

ClinVar
Risk rs147313927(C,G;C,G)
Alt rs147313927(C,G;C,G)
Reference rs147313927(T;T)
Significance Pathogenic
Disease not provided Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN not provided Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88452941T>C
CLNSRC HGMD
CLNACC RCV000078200.3, RCV000178047.1,