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rs202131052

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202131052(A;A)
Make rs202131052(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position87976482
GeneGALC
is asnp
is mentioned by
dbSNPrs202131052
dbSNP (old)rs202131052
ClinGenrs202131052
ebirs202131052
HLIrs202131052
Exacrs202131052
Gnomadrs202131052
Varsomers202131052
Maprs202131052
PheGenIrs202131052
Biobankrs202131052
1000 genomesrs202131052
hgdprs202131052
ensemblrs202131052
gopubmedrs202131052
geneviewrs202131052
scholarrs202131052
googlers202131052
pharmgkbrs202131052
gwascentralrs202131052
openSNPrs202131052
23andMers202131052
23andMe allrs202131052
SNP Nexus

SNPshotrs202131052
SNPdbers202131052
MSV3drs202131052
GWAS Ctlgrs202131052
Max Magnitude0
ClinVar
Risk rs202131052(A;A)
Alt rs202131052(A;A)
Reference Rs202131052(T;T)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88442826T>A
CLNSRC
CLNACC RCV000408648.1,