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rs1057517372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517372(-;TAG)
Make rs1057517372(TAG;TAG)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87949910
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517372
dbSNP (old)rs1057517372
ClinGenrs1057517372
ebirs1057517372
HLIrs1057517372
Exacrs1057517372
Gnomadrs1057517372
Varsomers1057517372
Maprs1057517372
PheGenIrs1057517372
Biobankrs1057517372
1000 genomesrs1057517372
hgdprs1057517372
ensemblrs1057517372
gopubmedrs1057517372
geneviewrs1057517372
scholarrs1057517372
googlers1057517372
pharmgkbrs1057517372
gwascentralrs1057517372
openSNPrs1057517372
23andMers1057517372
23andMe allrs1057517372
SNP Nexus

SNPshotrs1057517372
SNPdbers1057517372
MSV3drs1057517372
GWAS Ctlgrs1057517372
Max Magnitude0
ClinVar
Risk rs1057517372(TAG;TAG)
Alt rs1057517372(TAG;TAG)
Reference Rs1057517372(-;-)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88416254_88416255insCTA
CLNSRC
CLNACC RCV000410806.1,