RS138211175 CBS

Health Risk Chr 21:43058918 snv missense variant
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=4
Associated Conditions
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Population Frequencies
1kG AFR
0.2%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in CBS
rs121964962 rs121964963 rs121964964 rs5742905 rs121964965 rs121964966 rs121964967 rs121964968 rs121964969 rs28934891
Ask Dr. Hemsworth about this variant