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rs111033722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033722(A;A)
Make rs111033722(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648161
GeneGALT
is asnp
is mentioned by
dbSNPrs111033722
ebirs111033722
HLIrs111033722
Exacrs111033722
Varsomers111033722
Maprs111033722
PheGenIrs111033722
hapmaprs111033722
1000 genomesrs111033722
hgdprs111033722
ensemblrs111033722
gopubmedrs111033722
geneviewrs111033722
scholarrs111033722
googlers111033722
pharmgkbrs111033722
gwascentralrs111033722
openSNPrs111033722
23andMers111033722
23andMe allrs111033722
SNP Nexus

SNPshotrs111033722
SNPdbers111033722
MSV3drs111033722
GWAS Ctlgrs111033722
Max Magnitude0
ClinVar
Risk rs111033722(A,T;A,T)
Alt rs111033722(A,T;A,T)
Reference rs111033722(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.34648158C>A; NC_000009.11:g.34648158C>T
CLNSRC ARUP GALT
CLNACC RCV000022148.1, RCV000022149.1,