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rs111033719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs111033719(-;-)
Make rs111033719(-;G)
Make rs111033719(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648135
GeneGALT
is asnp
is mentioned by
dbSNPrs111033719
ebirs111033719
HLIrs111033719
Exacrs111033719
Varsomers111033719
Maprs111033719
PheGenIrs111033719
hapmaprs111033719
1000 genomesrs111033719
hgdprs111033719
ensemblrs111033719
gopubmedrs111033719
geneviewrs111033719
scholarrs111033719
googlers111033719
pharmgkbrs111033719
gwascentralrs111033719
openSNPrs111033719
23andMers111033719
23andMe allrs111033719
SNP Nexus

SNPshotrs111033719
SNPdbers111033719
MSV3drs111033719
GWAS Ctlgrs111033719
Max Magnitude0
ClinVar
Risk rs111033719(G;G)
Alt rs111033719(G;G)
Reference rs111033719(;)
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.34648132_34648133insG
CLNSRC ClinVar
CLNACC RCV000022140.1,