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rs111033692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033692(A;G)
Make rs111033692(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647878
GeneGALT
is asnp
is mentioned by
dbSNPrs111033692
ebirs111033692
HLIrs111033692
Exacrs111033692
Varsomers111033692
Maprs111033692
PheGenIrs111033692
hapmaprs111033692
1000 genomesrs111033692
hgdprs111033692
ensemblrs111033692
gopubmedrs111033692
geneviewrs111033692
scholarrs111033692
googlers111033692
pharmgkbrs111033692
gwascentralrs111033692
openSNPrs111033692
23andMers111033692
23andMe allrs111033692
SNP Nexus

SNPshotrs111033692
SNPdbers111033692
MSV3drs111033692
GWAS Ctlgrs111033692
Max Magnitude0
ClinVar
Risk rs111033692(G;G)
Alt rs111033692(G;G)
Reference rs111033692(A;A)
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.34647875A>G
CLNSRC ARUP GALT
CLNACC RCV000022109.1,