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rs1057516394

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516394(-;-)
Make rs1057516394(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87949910
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516394
dbSNP (old)rs1057516394
ClinGenrs1057516394
ebirs1057516394
HLIrs1057516394
Exacrs1057516394
Gnomadrs1057516394
Varsomers1057516394
Maprs1057516394
PheGenIrs1057516394
Biobankrs1057516394
1000 genomesrs1057516394
hgdprs1057516394
ensemblrs1057516394
gopubmedrs1057516394
geneviewrs1057516394
scholarrs1057516394
googlers1057516394
pharmgkbrs1057516394
gwascentralrs1057516394
openSNPrs1057516394
23andMers1057516394
23andMe allrs1057516394
SNPshotrs1057516394
SNPdbers1057516394
MSV3drs1057516394
GWAS Ctlgrs1057516394
Max Magnitude0
ClinVar
Risk rs1057516394(-;-)
Alt rs1057516394(-;-)
Reference Rs1057516394(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.88416254delC
CLNSRC
CLNACC RCV000411089.1,