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rs1057516673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516673(A;T)
Make rs1057516673(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87986516
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516673
dbSNP (old)rs1057516673
ClinGenrs1057516673
ebirs1057516673
HLIrs1057516673
Exacrs1057516673
Gnomadrs1057516673
Varsomers1057516673
Maprs1057516673
PheGenIrs1057516673
Biobankrs1057516673
1000 genomesrs1057516673
hgdprs1057516673
ensemblrs1057516673
gopubmedrs1057516673
geneviewrs1057516673
scholarrs1057516673
googlers1057516673
pharmgkbrs1057516673
gwascentralrs1057516673
openSNPrs1057516673
23andMers1057516673
23andMe allrs1057516673
SNP Nexus

SNPshotrs1057516673
SNPdbers1057516673
MSV3drs1057516673
GWAS Ctlgrs1057516673
Max Magnitude0
ClinVar
Risk rs1057516673(G;G) rs1057516673(T;T)
Alt rs1057516673(G;G) rs1057516673(T;T)
Reference Rs1057516673(A;A)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88452860T>A
CLNSRC
CLNACC RCV000411282.1,