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rs1057517382

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517382(-;-)
Make rs1057517382(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87965517
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517382
dbSNP (old)rs1057517382
ClinGenrs1057517382
ebirs1057517382
HLIrs1057517382
Exacrs1057517382
Gnomadrs1057517382
Varsomers1057517382
Maprs1057517382
PheGenIrs1057517382
Biobankrs1057517382
1000 genomesrs1057517382
hgdprs1057517382
ensemblrs1057517382
gopubmedrs1057517382
geneviewrs1057517382
scholarrs1057517382
googlers1057517382
pharmgkbrs1057517382
gwascentralrs1057517382
openSNPrs1057517382
23andMers1057517382
23andMe allrs1057517382
SNPshotrs1057517382
SNPdbers1057517382
MSV3drs1057517382
GWAS Ctlgrs1057517382
Max Magnitude0
ClinVar
Risk rs1057517382(-;-)
Alt rs1057517382(-;-)
Reference Rs1057517382(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88431861delC
CLNSRC
CLNACC RCV000409313.1,