RS146092501 COL6A3

Health Risk Chr 2:237371861
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What This Variant Does
"CLNSIG=255
Associated Conditions
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait
COL6A3-related disorder
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait
COL6A3-related disorder
GWAS Studies (5)
Trait Risk Allele OR / Beta P-value Study
Coronary artery disease T OR: 25 3E-28 PubMed
Myocardial infarction C OR: 50 1E-24 PubMed
Ischemic stroke C OR: 12.5 1E-8 PubMed
Chronic kidney disease C OR: 4.17 3E-7 PubMed
Hypertension C OR: 1.82 4E-7 PubMed
Other Variants in COL6A3
rs121434553 rs749037028 rs121434554 rs2469867055 rs121434555 rs397515332 rs114511558 rs398124119 rs201962257 rs375909800
Ask Dr. Hemsworth about this variant