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rs111033751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033751(C;G)
Make rs111033751(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648445
GeneGALT
is asnp
is mentioned by
dbSNPrs111033751
ebirs111033751
HLIrs111033751
Exacrs111033751
Varsomers111033751
Maprs111033751
PheGenIrs111033751
hapmaprs111033751
1000 genomesrs111033751
hgdprs111033751
ensemblrs111033751
gopubmedrs111033751
geneviewrs111033751
scholarrs111033751
googlers111033751
pharmgkbrs111033751
gwascentralrs111033751
openSNPrs111033751
23andMers111033751
23andMe allrs111033751
SNP Nexus

SNPshotrs111033751
SNPdbers111033751
MSV3drs111033751
GWAS Ctlgrs111033751
Max Magnitude0
ClinVar
Risk rs111033751(G;G)
Alt rs111033751(G;G)
Reference rs111033751(C;C)
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.34648442C>G
CLNSRC ARUP GALT
CLNACC RCV000022179.1,