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rs1057516433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516433(-;-)
Make rs1057516433(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87939965
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516433
dbSNP (old)rs1057516433
ClinGenrs1057516433
ebirs1057516433
HLIrs1057516433
Exacrs1057516433
Gnomadrs1057516433
Varsomers1057516433
Maprs1057516433
PheGenIrs1057516433
Biobankrs1057516433
1000 genomesrs1057516433
hgdprs1057516433
ensemblrs1057516433
gopubmedrs1057516433
geneviewrs1057516433
scholarrs1057516433
googlers1057516433
pharmgkbrs1057516433
gwascentralrs1057516433
openSNPrs1057516433
23andMers1057516433
23andMe allrs1057516433
SNP Nexus

SNPshotrs1057516433
SNPdbers1057516433
MSV3drs1057516433
GWAS Ctlgrs1057516433
Max Magnitude0
ClinVar
Risk rs1057516433(-;-)
Alt rs1057516433(-;-)
Reference Rs1057516433(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.88406309delA
CLNSRC
CLNACC RCV000409588.1,