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rs1057516808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516808(-;-)
Make rs1057516808(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87965566
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516808
dbSNP (old)rs1057516808
ClinGenrs1057516808
ebirs1057516808
HLIrs1057516808
Exacrs1057516808
Gnomadrs1057516808
Varsomers1057516808
Maprs1057516808
PheGenIrs1057516808
Biobankrs1057516808
1000 genomesrs1057516808
hgdprs1057516808
ensemblrs1057516808
gopubmedrs1057516808
geneviewrs1057516808
scholarrs1057516808
googlers1057516808
pharmgkbrs1057516808
gwascentralrs1057516808
openSNPrs1057516808
23andMers1057516808
23andMe allrs1057516808
SNPshotrs1057516808
SNPdbers1057516808
MSV3drs1057516808
GWAS Ctlgrs1057516808
Max Magnitude0
ClinVar
Risk rs1057516808(-;-)
Alt rs1057516808(-;-)
Reference Rs1057516808(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.88431910delC
CLNSRC
CLNACC RCV000410081.1,