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rs111033668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033668(G;G)
Make rs111033668(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647524
GeneGALT
is asnp
is mentioned by
dbSNPrs111033668
dbSNP (classic)rs111033668
ClinGenrs111033668
ebirs111033668
HLIrs111033668
Exacrs111033668
Gnomadrs111033668
Varsomers111033668
LitVarrs111033668
Maprs111033668
PheGenIrs111033668
Biobankrs111033668
1000 genomesrs111033668
hgdprs111033668
ensemblrs111033668
geneviewrs111033668
scholarrs111033668
googlers111033668
pharmgkbrs111033668
gwascentralrs111033668
openSNPrs111033668
23andMers111033668
SNPshotrs111033668
SNPdbers111033668
MSV3drs111033668
GWAS Ctlgrs111033668
Max Magnitude0
ClinVar
Risk rs111033668(C;C) rs111033668(G;G)
Alt rs111033668(C;C) rs111033668(G;G)
Reference Rs111033668(T;T)
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.34647521T>G
CLNSRC ARUP GALT
CLNACC RCV000022076.1,