RS200287952 COL4A3

Health Risk Chr 2:227277511
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What This Variant Does
"CLNSIG=4
Associated Conditions
Autosomal dominant Alport syndrome
Kidney disorder
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Hematuria
benign familial
2
Alport syndrome 3b
autosomal recessive
Autosomal dominant Alport syndrome
Kidney disorder
Alport syndrome
Autosomal recessive Alport syndrome
GWAS Studies (2)
Trait Risk Allele OR / Beta P-value Study
Hematuria (moderate to severe) A OR: 5.46 8E-8 PubMed
Hematuria A OR: 4.77 5E-7 PubMed
Other Variants in COL4A3
rs121912824 rs121912825 rs1325453230 rs121912826 rs121912827 rs267606745 rs759739044 rs876657397 rs869025328 rs869025326
Ask Dr. Hemsworth about this variant