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rs111033684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033684(G;G)
Make rs111033684(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647846
GeneGALT
is asnp
is mentioned by
dbSNPrs111033684
dbSNP (classic)rs111033684
ClinGenrs111033684
ebirs111033684
HLIrs111033684
Exacrs111033684
Gnomadrs111033684
Varsomers111033684
LitVarrs111033684
Maprs111033684
PheGenIrs111033684
Biobankrs111033684
1000 genomesrs111033684
hgdprs111033684
ensemblrs111033684
geneviewrs111033684
scholarrs111033684
googlers111033684
pharmgkbrs111033684
gwascentralrs111033684
openSNPrs111033684
23andMers111033684
SNPshotrs111033684
SNPdbers111033684
MSV3drs111033684
GWAS Ctlgrs111033684
Max Magnitude0
ClinVar
Risk rs111033684(G;G)
Alt rs111033684(G;G)
Reference Rs111033684(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.34647843T>G
CLNSRC ARUP GALT
CLNACC RCV000022101.1,