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rs111033710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033710(C;C)
Make rs111033710(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647963
GeneGALT
is asnp
is mentioned by
dbSNPrs111033710
ebirs111033710
HLIrs111033710
Exacrs111033710
Varsomers111033710
Maprs111033710
PheGenIrs111033710
hapmaprs111033710
1000 genomesrs111033710
hgdprs111033710
ensemblrs111033710
gopubmedrs111033710
geneviewrs111033710
scholarrs111033710
googlers111033710
pharmgkbrs111033710
gwascentralrs111033710
openSNPrs111033710
23andMers111033710
23andMe allrs111033710
SNP Nexus

SNPshotrs111033710
SNPdbers111033710
MSV3drs111033710
GWAS Ctlgrs111033710
Max Magnitude0
ClinVar
Risk rs111033710(C;C)
Alt rs111033710(C;C)
Reference rs111033710(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.34647960T>C
CLNSRC ARUP GALT
CLNACC RCV000022127.1,