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rs111033740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033740(C;C)
Make rs111033740(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648380
GeneGALT
is asnp
is mentioned by
dbSNPrs111033740
ebirs111033740
HLIrs111033740
Exacrs111033740
Varsomers111033740
Maprs111033740
PheGenIrs111033740
hapmaprs111033740
1000 genomesrs111033740
hgdprs111033740
ensemblrs111033740
gopubmedrs111033740
geneviewrs111033740
scholarrs111033740
googlers111033740
pharmgkbrs111033740
gwascentralrs111033740
openSNPrs111033740
23andMers111033740
23andMe allrs111033740
SNP Nexus

SNPshotrs111033740
SNPdbers111033740
MSV3drs111033740
GWAS Ctlgrs111033740
Max Magnitude0
ClinVar
Risk rs111033740(A,C,T;A,C,T)
Alt rs111033740(A,C,T;A,C,T)
Reference rs111033740(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.34648377G>A; NC_000009.11:g.34648377G>C
CLNSRC ARUP GALT
CLNACC RCV000179722.1, RCV000022165.1,