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rs111033757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033757(C;C)
Make rs111033757(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648819
GeneGALT
is asnp
is mentioned by
dbSNPrs111033757
ebirs111033757
HLIrs111033757
Exacrs111033757
Varsomers111033757
Maprs111033757
PheGenIrs111033757
hapmaprs111033757
1000 genomesrs111033757
hgdprs111033757
ensemblrs111033757
gopubmedrs111033757
geneviewrs111033757
scholarrs111033757
googlers111033757
pharmgkbrs111033757
gwascentralrs111033757
openSNPrs111033757
23andMers111033757
23andMe allrs111033757
SNP Nexus

SNPshotrs111033757
SNPdbers111033757
MSV3drs111033757
GWAS Ctlgrs111033757
Max Magnitude0
ClinVar
Risk rs111033757(C;C)
Alt rs111033757(C;C)
Reference rs111033757(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.34648816T>C
CLNSRC ARUP GALT
CLNACC RCV000022189.1,