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rs1057516453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516453(A;A)
Make rs1057516453(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87939926
GeneGALC
is asnp
is mentioned by
dbSNPrs1057516453
dbSNP (old)rs1057516453
ClinGenrs1057516453
ebirs1057516453
HLIrs1057516453
Exacrs1057516453
Gnomadrs1057516453
Varsomers1057516453
LitVarrs1057516453
Maprs1057516453
PheGenIrs1057516453
Biobankrs1057516453
1000 genomesrs1057516453
hgdprs1057516453
ensemblrs1057516453
gopubmedrs1057516453
geneviewrs1057516453
scholarrs1057516453
googlers1057516453
pharmgkbrs1057516453
gwascentralrs1057516453
openSNPrs1057516453
23andMers1057516453
23andMe allrs1057516453
SNPshotrs1057516453
SNPdbers1057516453
MSV3drs1057516453
GWAS Ctlgrs1057516453
Max Magnitude0
ClinVar
Risk rs1057516453(A;A)
Alt rs1057516453(A;A)
Reference Rs1057516453(T;T)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency not provided
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency not provided
Reversed 1
HGVS NC_000014.8:g.88406270A>T
CLNSRC
CLNACC RCV000411823.1, RCV000482303.1,