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rs111033674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033674(C;G)
Make rs111033674(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647695
GeneGALT
is asnp
is mentioned by
dbSNPrs111033674
dbSNP (classic)rs111033674
ClinGenrs111033674
ebirs111033674
HLIrs111033674
Exacrs111033674
Gnomadrs111033674
Varsomers111033674
LitVarrs111033674
Maprs111033674
PheGenIrs111033674
Biobankrs111033674
1000 genomesrs111033674
hgdprs111033674
ensemblrs111033674
geneviewrs111033674
scholarrs111033674
googlers111033674
pharmgkbrs111033674
gwascentralrs111033674
openSNPrs111033674
23andMers111033674
SNPshotrs111033674
SNPdbers111033674
MSV3drs111033674
GWAS Ctlgrs111033674
Max Magnitude0
ClinVar
Risk rs111033674(G;G) rs111033674(T;T)
Alt rs111033674(G;G) rs111033674(T;T)
Reference Rs111033674(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34647692C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000022078.1,