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rs1057516816

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516816(C;G)
Make rs1057516816(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87993036
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516816
dbSNP (old)rs1057516816
ClinGenrs1057516816
ebirs1057516816
HLIrs1057516816
Exacrs1057516816
Gnomadrs1057516816
Varsomers1057516816
Maprs1057516816
PheGenIrs1057516816
Biobankrs1057516816
1000 genomesrs1057516816
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openSNPrs1057516816
23andMers1057516816
23andMe allrs1057516816
SNP Nexus

SNPshotrs1057516816
SNPdbers1057516816
MSV3drs1057516816
GWAS Ctlgrs1057516816
Max Magnitude0
ClinVar
Risk rs1057516816(G;G)
Alt rs1057516816(G;G)
Reference Rs1057516816(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.88459380G>C
CLNSRC
CLNACC RCV000410107.1,