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rs1057516632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516632(G;G)
Make rs1057516632(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87986487
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516632
dbSNP (old)rs1057516632
ClinGenrs1057516632
ebirs1057516632
HLIrs1057516632
Exacrs1057516632
Gnomadrs1057516632
Varsomers1057516632
Maprs1057516632
PheGenIrs1057516632
Biobankrs1057516632
1000 genomesrs1057516632
hgdprs1057516632
ensemblrs1057516632
gopubmedrs1057516632
geneviewrs1057516632
scholarrs1057516632
googlers1057516632
pharmgkbrs1057516632
gwascentralrs1057516632
openSNPrs1057516632
23andMers1057516632
23andMe allrs1057516632
SNPshotrs1057516632
SNPdbers1057516632
MSV3drs1057516632
GWAS Ctlgrs1057516632
Max Magnitude0
ClinVar
Risk rs1057516632(G;G)
Alt rs1057516632(G;G)
Reference Rs1057516632(T;T)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88452831A>C
CLNSRC
CLNACC RCV000411149.1,