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rs786204618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Krabbe disease (likely)
(A;C) 3 carrier of one Krabbe disease allele
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87982227
GeneGALC
is asnp
is mentioned by
dbSNPrs786204618
ebirs786204618
HLIrs786204618
Exacrs786204618
Varsomers786204618
Maprs786204618
PheGenIrs786204618
hapmaprs786204618
1000 genomesrs786204618
hgdprs786204618
ensemblrs786204618
gopubmedrs786204618
geneviewrs786204618
scholarrs786204618
googlers786204618
pharmgkbrs786204618
gwascentralrs786204618
openSNPrs786204618
23andMers786204618
23andMe allrs786204618
SNP Nexus

SNPshotrs786204618
SNPdbers786204618
MSV3drs786204618
GWAS Ctlgrs786204618
Max Magnitude6

aka c.599C>A, p.Ser200Ter

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

ClinVar
Risk rs786204618(A;A)
Alt rs786204618(A;A)
Reference rs786204618(C;C)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88448571G>T
CLNSRC
CLNACC RCV000169386.1,