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rs111033836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033836(A;A)
Make rs111033836(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647106
GeneGALT
is asnp
is mentioned by
dbSNPrs111033836
dbSNP (classic)rs111033836
ClinGenrs111033836
ebirs111033836
HLIrs111033836
Exacrs111033836
Gnomadrs111033836
Varsomers111033836
LitVarrs111033836
Maprs111033836
PheGenIrs111033836
Biobankrs111033836
1000 genomesrs111033836
hgdprs111033836
ensemblrs111033836
geneviewrs111033836
scholarrs111033836
googlers111033836
pharmgkbrs111033836
gwascentralrs111033836
openSNPrs111033836
23andMers111033836
SNPshotrs111033836
SNPdbers111033836
MSV3drs111033836
GWAS Ctlgrs111033836
Max Magnitude0
ClinVar
Risk rs111033836(A;A)
Alt rs111033836(A;A)
Reference Rs111033836(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.34647103T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022052.2,