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rs200378205

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
Position87945631
GeneGALC
is asnp
is mentioned by
dbSNPrs200378205
ebirs200378205
HLIrs200378205
Exacrs200378205
Varsomers200378205
Maprs200378205
PheGenIrs200378205
hapmaprs200378205
1000 genomesrs200378205
hgdprs200378205
ensemblrs200378205
gopubmedrs200378205
geneviewrs200378205
scholarrs200378205
googlers200378205
pharmgkbrs200378205
gwascentralrs200378205
openSNPrs200378205
23andMers200378205
23andMe allrs200378205
SNP Nexus

SNPshotrs200378205
SNPdbers200378205
MSV3drs200378205
GWAS Ctlgrs200378205
Max Magnitude6

aka c.1592G>A, p.Arg531His

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

ClinVar
Risk rs200378205(T;T)
Alt rs200378205(T;T)
Reference rs200378205(C;C)
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.88411975C>T
CLNSRC HGMD
CLNACC RCV000153296.2, RCV000174662.1,