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rs1057516642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516642(C;G)
Make rs1057516642(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87965586
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516642
dbSNP (old)rs1057516642
ClinGenrs1057516642
ebirs1057516642
HLIrs1057516642
Exacrs1057516642
Gnomadrs1057516642
Varsomers1057516642
LitVarrs1057516642
Maprs1057516642
PheGenIrs1057516642
Biobankrs1057516642
1000 genomesrs1057516642
hgdprs1057516642
ensemblrs1057516642
gopubmedrs1057516642
geneviewrs1057516642
scholarrs1057516642
googlers1057516642
pharmgkbrs1057516642
gwascentralrs1057516642
openSNPrs1057516642
23andMers1057516642
23andMe allrs1057516642
SNPshotrs1057516642
SNPdbers1057516642
MSV3drs1057516642
GWAS Ctlgrs1057516642
Max Magnitude0
ClinVar
Risk rs1057516642(G;G)
Alt rs1057516642(G;G)
Reference Rs1057516642(C;C)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88431930G>C
CLNSRC
CLNACC RCV000412229.1,