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rs111033708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033708(C;C)
Make rs111033708(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647953
GeneGALT
is asnp
is mentioned by
dbSNPrs111033708
ebirs111033708
HLIrs111033708
Exacrs111033708
Varsomers111033708
Maprs111033708
PheGenIrs111033708
hapmaprs111033708
1000 genomesrs111033708
hgdprs111033708
ensemblrs111033708
gopubmedrs111033708
geneviewrs111033708
scholarrs111033708
googlers111033708
pharmgkbrs111033708
gwascentralrs111033708
openSNPrs111033708
23andMers111033708
23andMe allrs111033708
SNP Nexus

SNPshotrs111033708
SNPdbers111033708
MSV3drs111033708
GWAS Ctlgrs111033708
Max Magnitude0
ClinVar
Risk rs111033708(C;C)
Alt rs111033708(C;C)
Reference rs111033708(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.34647950T>C
CLNSRC ARUP GALT
CLNACC RCV000022124.1,