RS137853921 BBS5

Health Risk Chr 2:169493768 snv missense variant

Upload your DNA to see your genotype for this variant.

Associated Conditions

Cone dystrophy

Bardet-Biedl syndrome

Uterine corpus endometrial carcinoma

Colorectal cancer

Familial cancer of breast

Intellectual disability

Retinal dystrophy

Colon adenocarcinoma

Sarcoma

Lung cancer

Gastric cancer

Thyroid cancer

nonmedullary

Melanoma

Population Frequencies

gnomAD ALL

99.5%

1kG AFR

100%

1kG ALL

99.8%

1kG AMR

99.6%

1kG EAS

100%

1kG EUR

0.7%

1kG SAS

99.9%

Other Variants in BBS5