BBS9 Chromosome 7
Bardet-Biedl syndrome 9
Upload your DNA to see your personal genotypes for variants in BBS9.
What This Gene Does
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000122507
Associated Conditions (26)
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder
Inborn genetic diseases
Melanoma
Malignant tumor of esophagus
Clear cell carcinoma of kidney
Gastric cancer
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Retinal dystrophy
Sarcoma
Ovarian serous cystadenocarcinoma
Adrenocortical carcinoma
hereditary
Lung cancer
Familial cancer of breast
Retinitis pigmentosa
+6 more conditions
Key Variants
RS1044033927
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
Health Risk
RS116262072
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
Health Risk
RS1279852557
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, BBS9-related disorder
Health Risk
RS138072724
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Melanoma
Health Risk
RS139235142
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, BBS9-related disorder
Health Risk
RS140411078
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, BBS9-related disorder
Health Risk
RS142434516
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS142563811
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
Health Risk
RS143963391
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS9-related disorder, Bardet-Biedl syndrome 9
Health Risk
RS144112103
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS9-related disorder, Inborn genetic diseases
Health Risk
RS144672900
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
Health Risk
RS145007686
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536369378 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2537396400 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2537396838 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2537669686 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS2537669983 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2538378769 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS587777810 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS606231137 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS747388658 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, BBS9-related disorder |
| RS749403663 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS749783672 | Health Risk | Pathogenic | Bardet-Biedl syndrome, BBS9-related disorder, Bardet-Biedl syndrome |
| RS749974697 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS762425767 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS769256027 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS770310531 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS775081992 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Retinal vascular dystrophy, BBS9-related disorder |
| RS779588488 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS781174906 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS869025208 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS886039799 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS886042258 | Health Risk | Pathogenic | — |
| RS948418225 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Abnormality of the eye, Bardet-Biedl syndrome 9 |
| RS998200637 | Health Risk | Pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Retinal dystrophy |
| RS1229015450 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS1295000119 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, BBS9-related disorder |
| RS137852856 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Nephronophthisis 4 |
| RS1384578916 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, BBS9-related disorder |
| RS1401715737 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS1408974101 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS1452644432 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1815414782 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS201938124 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, BBS9-related disorder |
| RS2128345173 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Abnormality of the eye, Bardet-Biedl syndrome |
| RS2128646927 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS2128667543 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS370729939 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS372905559 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS377289479 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS587777811 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS746797123 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS748601675 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS758462362 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS762511626 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS767005321 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Retinal dystrophy, Bardet-Biedl syndrome 9 |
| RS773577974 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 9, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9 |
| RS863224534 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS928813600 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, BBS9-related disorder |