Have questions? Visit https://www.reddit.com/r/SNPedia

rs766310671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Krabbe disease (likely)
(A;G) 3 carrier of one Krabbe disease allele
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position87976452
GeneGALC
is asnp
is mentioned by
dbSNPrs766310671
ebirs766310671
HLIrs766310671
Exacrs766310671
Varsomers766310671
Maprs766310671
PheGenIrs766310671
hapmaprs766310671
1000 genomesrs766310671
hgdprs766310671
ensemblrs766310671
gopubmedrs766310671
geneviewrs766310671
scholarrs766310671
googlers766310671
pharmgkbrs766310671
gwascentralrs766310671
openSNPrs766310671
23andMers766310671
23andMe allrs766310671
SNP Nexus

SNPshotrs766310671
SNPdbers766310671
MSV3drs766310671
GWAS Ctlgrs766310671
Max Magnitude6

aka c.658C>T, p.Arg220Ter

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

ClinVar
Risk rs766310671(A;A)
Alt rs766310671(A;A)
Reference rs766310671(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88442796G>A
CLNSRC
CLNACC RCV000169413.1,