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rs111033694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033694(A;A)
Make rs111033694(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647897
GeneGALT
is asnp
is mentioned by
dbSNPrs111033694
ebirs111033694
HLIrs111033694
Exacrs111033694
Varsomers111033694
Maprs111033694
PheGenIrs111033694
hapmaprs111033694
1000 genomesrs111033694
hgdprs111033694
ensemblrs111033694
gopubmedrs111033694
geneviewrs111033694
scholarrs111033694
googlers111033694
pharmgkbrs111033694
gwascentralrs111033694
openSNPrs111033694
23andMers111033694
23andMe allrs111033694
SNP Nexus

SNPshotrs111033694
SNPdbers111033694
MSV3drs111033694
GWAS Ctlgrs111033694
Max Magnitude0
ClinVar
Risk rs111033694(A;A)
Alt rs111033694(A;A)
Reference rs111033694(G;G)
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.34647894G>A
CLNSRC ARUP GALT
CLNACC RCV000022114.2,