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rs111033750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033750(A;A)
Make rs111033750(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648436
GeneGALT
is asnp
is mentioned by
dbSNPrs111033750
ebirs111033750
HLIrs111033750
Exacrs111033750
Varsomers111033750
Maprs111033750
PheGenIrs111033750
hapmaprs111033750
1000 genomesrs111033750
hgdprs111033750
ensemblrs111033750
gopubmedrs111033750
geneviewrs111033750
scholarrs111033750
googlers111033750
pharmgkbrs111033750
gwascentralrs111033750
openSNPrs111033750
23andMers111033750
23andMe allrs111033750
SNP Nexus

SNPshotrs111033750
SNPdbers111033750
MSV3drs111033750
GWAS Ctlgrs111033750
Max Magnitude0
ClinVar
Risk rs111033750(A,T;A,T)
Alt rs111033750(A,T;A,T)
Reference rs111033750(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.34648433C>A
CLNSRC ARUP GALT
CLNACC RCV000022178.1,