RS143493067 UPB1

Health Risk Chr 22:24523618
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What This Variant Does
"This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening..."
Associated Conditions
Deficiency of beta-ureidopropionase
Inborn genetic diseases
UPB1-related disorder
Clear cell carcinoma of kidney
Cervical cancer
Malignant tumor of esophagus
Deficiency of beta-ureidopropionase
Inborn genetic diseases
UPB1-related disorder
Clear cell carcinoma of kidney
Cervical cancer
Malignant tumor of esophagus
GWAS Studies (3)
Trait Risk Allele OR / Beta P-value Study
3-ureidopropionate levels A OR: 1.88 8E-59 PubMed
Gamma glutamyl transferase levels A OR: 0.34 7E-32 PubMed
UPB1 protein levels A OR: 0.75 1E-24 PubMed
Other Variants in UPB1
rs138081800 rs34035085 rs118163237 rs747539101 rs145749836 rs200161281 rs199788632 rs770091394 rs200145797 rs145766755
Ask Dr. Hemsworth about this variant