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rs1057517336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517336(A;A)
Make rs1057517336(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position87984443
GeneGALC
is asnp
is mentioned by
dbSNPrs1057517336
dbSNP (old)rs1057517336
ClinGenrs1057517336
ebirs1057517336
HLIrs1057517336
Exacrs1057517336
Gnomadrs1057517336
Varsomers1057517336
LitVarrs1057517336
Maprs1057517336
PheGenIrs1057517336
Biobankrs1057517336
1000 genomesrs1057517336
hgdprs1057517336
ensemblrs1057517336
gopubmedrs1057517336
geneviewrs1057517336
scholarrs1057517336
googlers1057517336
pharmgkbrs1057517336
gwascentralrs1057517336
openSNPrs1057517336
23andMers1057517336
23andMe allrs1057517336
SNPshotrs1057517336
SNPdbers1057517336
MSV3drs1057517336
GWAS Ctlgrs1057517336
Max Magnitude0
ClinVar
Risk rs1057517336(A;A)
Alt rs1057517336(A;A)
Reference Rs1057517336(G;G)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88450787C>T
CLNSRC
CLNACC RCV000410261.1,