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rs111033816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033816(-;-)
Make rs111033816(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649552
GeneGALT
is asnp
is mentioned by
dbSNPrs111033816
ebirs111033816
HLIrs111033816
Exacrs111033816
Varsomers111033816
Maprs111033816
PheGenIrs111033816
hapmaprs111033816
1000 genomesrs111033816
hgdprs111033816
ensemblrs111033816
gopubmedrs111033816
geneviewrs111033816
scholarrs111033816
googlers111033816
pharmgkbrs111033816
gwascentralrs111033816
openSNPrs111033816
23andMers111033816
23andMe allrs111033816
SNP Nexus

SNPshotrs111033816
SNPdbers111033816
MSV3drs111033816
GWAS Ctlgrs111033816
Max Magnitude0
ClinVar
Risk rs111033816(;)
Alt rs111033816(;)
Reference rs111033816(C;C)
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.34649549delC
CLNSRC ClinVar
CLNACC RCV000022268.1,