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rs111033777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033777(-;-)
Make rs111033777(-;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649001
GeneGALT
is asnp
is mentioned by
dbSNPrs111033777
dbSNP (classic)rs111033777
ClinGenrs111033777
ebirs111033777
HLIrs111033777
Exacrs111033777
Gnomadrs111033777
Varsomers111033777
LitVarrs111033777
Maprs111033777
PheGenIrs111033777
Biobankrs111033777
1000 genomesrs111033777
hgdprs111033777
ensemblrs111033777
geneviewrs111033777
scholarrs111033777
googlers111033777
pharmgkbrs111033777
gwascentralrs111033777
openSNPrs111033777
23andMers111033777
SNPshotrs111033777
SNPdbers111033777
MSV3drs111033777
GWAS Ctlgrs111033777
Max Magnitude0
ClinVar
Risk rs111033777(-;-)
Alt rs111033777(-;-)
Reference Rs111033777(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.34648998delT
CLNSRC ClinVar
CLNACC RCV000022215.1,