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rs1057517082

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517082(-;A)
Make rs1057517082(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87947790
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517082
dbSNP (old)rs1057517082
ClinGenrs1057517082
ebirs1057517082
HLIrs1057517082
Exacrs1057517082
Gnomadrs1057517082
Varsomers1057517082
Maprs1057517082
PheGenIrs1057517082
Biobankrs1057517082
1000 genomesrs1057517082
hgdprs1057517082
ensemblrs1057517082
gopubmedrs1057517082
geneviewrs1057517082
scholarrs1057517082
googlers1057517082
pharmgkbrs1057517082
gwascentralrs1057517082
openSNPrs1057517082
23andMers1057517082
23andMe allrs1057517082
SNPshotrs1057517082
SNPdbers1057517082
MSV3drs1057517082
GWAS Ctlgrs1057517082
Max Magnitude0
ClinVar
Risk rs1057517082(A;A)
Alt rs1057517082(A;A)
Reference Rs1057517082(-;-)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88414135dupT
CLNSRC
CLNACC RCV000409116.1,