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rs111033717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033717(A;A)
Make rs111033717(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648159
GeneGALT
is asnp
is mentioned by
dbSNPrs111033717
ebirs111033717
HLIrs111033717
Exacrs111033717
Varsomers111033717
Maprs111033717
PheGenIrs111033717
hapmaprs111033717
1000 genomesrs111033717
hgdprs111033717
ensemblrs111033717
gopubmedrs111033717
geneviewrs111033717
scholarrs111033717
googlers111033717
pharmgkbrs111033717
gwascentralrs111033717
openSNPrs111033717
23andMers111033717
23andMe allrs111033717
SNP Nexus

SNPshotrs111033717
SNPdbers111033717
MSV3drs111033717
GWAS Ctlgrs111033717
Max Magnitude0
ClinVar
Risk rs111033717(A;A)
Alt rs111033717(A;A)
Reference rs111033717(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.34648156C>A
CLNSRC ARUP GALT
CLNACC RCV000022146.1,