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rs111033680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033680(C;C)
Make rs111033680(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647702
GeneGALT
is asnp
is mentioned by
dbSNPrs111033680
ebirs111033680
HLIrs111033680
Exacrs111033680
Varsomers111033680
Maprs111033680
PheGenIrs111033680
hapmaprs111033680
1000 genomesrs111033680
hgdprs111033680
ensemblrs111033680
gopubmedrs111033680
geneviewrs111033680
scholarrs111033680
googlers111033680
pharmgkbrs111033680
gwascentralrs111033680
openSNPrs111033680
23andMers111033680
23andMe allrs111033680
SNP Nexus

SNPshotrs111033680
SNPdbers111033680
MSV3drs111033680
GWAS Ctlgrs111033680
Max Magnitude0
ClinVar
Risk rs111033680(C;C)
Alt rs111033680(C;C)
Reference rs111033680(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.34647699T>C
CLNSRC ARUP GALT
CLNACC RCV000022094.1,