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rs756690487

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756690487(C;T)
Make rs756690487(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87986600
GeneGALC
is asnp
is mentioned by
dbSNPrs756690487
ebirs756690487
HLIrs756690487
Exacrs756690487
Varsomers756690487
Maprs756690487
PheGenIrs756690487
hapmaprs756690487
1000 genomesrs756690487
hgdprs756690487
ensemblrs756690487
gopubmedrs756690487
geneviewrs756690487
scholarrs756690487
googlers756690487
pharmgkbrs756690487
gwascentralrs756690487
openSNPrs756690487
23andMers756690487
23andMe allrs756690487
SNP Nexus

SNPshotrs756690487
SNPdbers756690487
MSV3drs756690487
GWAS Ctlgrs756690487
Max Magnitude0
ClinVar
Risk rs756690487(T;T)
Alt rs756690487(T;T)
Reference rs756690487(C;C)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88452944C>T
CLNSRC
CLNACC RCV000195270.1,