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rs752537626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 6 Krabbe disease (likely)
(G;T) 3 carrier of one Krabbe disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position87941529
GeneGALC
is asnp
is mentioned by
dbSNPrs752537626
ebirs752537626
HLIrs752537626
Exacrs752537626
Varsomers752537626
Maprs752537626
PheGenIrs752537626
hapmaprs752537626
1000 genomesrs752537626
hgdprs752537626
ensemblrs752537626
gopubmedrs752537626
geneviewrs752537626
scholarrs752537626
googlers752537626
pharmgkbrs752537626
gwascentralrs752537626
openSNPrs752537626
23andMers752537626
23andMe allrs752537626
SNP Nexus

SNPshotrs752537626
SNPdbers752537626
MSV3drs752537626
GWAS Ctlgrs752537626
Max Magnitude6

aka c.1700A>C, p.Tyr567Ser

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

ClinVar
Risk rs752537626(G;G)
Alt rs752537626(G;G)
Reference rs752537626(T;T)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88407873T>G
CLNSRC
CLNACC RCV000169344.1,