RS113452150 COL5A1

Health Risk Chr 9:134824806 snv missense variant
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=4
Associated Conditions
Ehlers-Danlos syndrome
classic type
1
Familial thoracic aortic aneurysm and aortic dissection
COL5A1-related disorder
Ehlers-Danlos syndrome
classic type
1
Familial thoracic aortic aneurysm and aortic dissection
COL5A1-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.8%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in COL5A1
rs786200922 rs786200923 rs80338764 rs183495554 rs765079080 rs786205100 rs121912933 rs786205101 rs786205102 rs387906606
Ask Dr. Hemsworth about this variant