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rs111033844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033844(G;T)
Make rs111033844(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648146
GeneGALT
is asnp
is mentioned by
dbSNPrs111033844
ebirs111033844
HLIrs111033844
Exacrs111033844
Varsomers111033844
Maprs111033844
PheGenIrs111033844
hapmaprs111033844
1000 genomesrs111033844
hgdprs111033844
ensemblrs111033844
gopubmedrs111033844
geneviewrs111033844
scholarrs111033844
googlers111033844
pharmgkbrs111033844
gwascentralrs111033844
openSNPrs111033844
23andMers111033844
23andMe allrs111033844
SNP Nexus

SNPshotrs111033844
SNPdbers111033844
MSV3drs111033844
GWAS Ctlgrs111033844
Max Magnitude0
ClinVar
Risk rs111033844(A,T;A,T)
Alt rs111033844(A,T;A,T)
Reference rs111033844(G;G)
Significance Pathogenic
Disease not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN not provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648143G>A; NC_000009.11:g.34648143G>T
CLNSRC ARUP GALT
CLNACC RCV000179262.1, RCV000022142.1,