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rs111033702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033702(G;G)
Make rs111033702(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647914
GeneGALT
is asnp
is mentioned by
dbSNPrs111033702
ebirs111033702
HLIrs111033702
Exacrs111033702
Varsomers111033702
Maprs111033702
PheGenIrs111033702
hapmaprs111033702
1000 genomesrs111033702
hgdprs111033702
ensemblrs111033702
gopubmedrs111033702
geneviewrs111033702
scholarrs111033702
googlers111033702
pharmgkbrs111033702
gwascentralrs111033702
openSNPrs111033702
23andMers111033702
23andMe allrs111033702
SNP Nexus

SNPshotrs111033702
SNPdbers111033702
MSV3drs111033702
GWAS Ctlgrs111033702
Max Magnitude0
ClinVar
Risk rs111033702(C,G;C,G)
Alt rs111033702(C,G;C,G)
Reference rs111033702(T;T)
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.34647911T>C; NC_000009.11:g.34647911T>G
CLNSRC ARUP GALT
CLNACC RCV000022118.1, RCV000022117.1,