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rs1057517185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517185(-;GG)
Make rs1057517185(GG;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87984507
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517185
dbSNP (old)rs1057517185
ClinGenrs1057517185
ebirs1057517185
HLIrs1057517185
Exacrs1057517185
Gnomadrs1057517185
Varsomers1057517185
Maprs1057517185
PheGenIrs1057517185
Biobankrs1057517185
1000 genomesrs1057517185
hgdprs1057517185
ensemblrs1057517185
gopubmedrs1057517185
geneviewrs1057517185
scholarrs1057517185
googlers1057517185
pharmgkbrs1057517185
gwascentralrs1057517185
openSNPrs1057517185
23andMers1057517185
23andMe allrs1057517185
SNP Nexus

SNPshotrs1057517185
SNPdbers1057517185
MSV3drs1057517185
GWAS Ctlgrs1057517185
Max Magnitude0
ClinVar
Risk rs1057517185(GG;GG)
Alt rs1057517185(GG;GG)
Reference Rs1057517185(-;-)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88450852_88450853dupCC
CLNSRC
CLNACC RCV000411607.1,