BBS9

Bardet-Biedl syndrome 9

Summary

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]

Known Variants852 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860622777:33,169,209G/A—uncertain significance
rs8860622787:33,169,218A/C—uncertain significance
rs1842712817:33,169,236G/C—benign
rs8860622797:33,169,257T/G—uncertain significance
rs37501237:33,169,258C/G—benign
rs5619013297:33,169,268G/A—uncertain significance
rs1120600997:33,169,360T/G—likely benign
rs8860622807:33,169,394G/A—uncertain significance
rs730953267:33,169,406G/A—benign
rs7717349727:33,169,437T/G—uncertain significance
rs9534127917:33,169,459T/G—uncertain significance
rs8860622817:33,169,502G/C—uncertain significance
rs14687977:33,169,660T/C—benign
rs171698077:33,181,238T/Cintron variant—
rs132444507:33,185,609T/C—benign
rs17923237757:33,185,873A/G—likely benign
rs7463450677:33,185,875T/G—uncertain significance
rs7476323667:33,185,882C/T—likely benign
rs1849941407:33,185,883C/T—uncertain significance
rs7463409937:33,185,884G/T—uncertain significance
rs7703105317:33,185,891G/A—pathogenic
rs44984407:33,185,898A/G—benign
rs7632344647:33,185,900T/C—likely benign
rs13299964537:33,185,913A/G—uncertain significance
rs7796388967:33,185,922T/G—uncertain significance
rs14347247197:33,185,924T/A—uncertain significance
rs17923341047:33,185,925G/C—uncertain significance
rs17923353177:33,185,935G/A—uncertain significance
rs17923377947:33,185,947C/T—uncertain significance
rs7606384727:33,185,952G/A—uncertain significance
rs17923405097:33,185,965G/A—uncertain significance
rs7536010807:33,185,966A/T—likely benign
rs5775366277:33,185,969T/C—likely benign
rs25352002117:33,185,978T/C—uncertain significance
rs17923456607:33,185,987T/G—likely benign
rs15626728007:33,185,989C/A—likely benign
rs17923480077:33,185,994A/G—likely benign
rs3716536587:33,185,995T/A—likely benign
rs774621097:33,186,065T/G—benign
rs1169270297:33,186,066T/A—benign
rs19695757:33,186,082G/C—benign
rs603108207:33,186,210C/T—benign
rs1437377257:33,186,317A/G—benign
rs14066067:33,192,166T/C—benign
rs5437146057:33,192,299T/A—likely benign
rs7663606177:33,192,300A/T—likely benign
rs17935276997:33,192,304T/C—likely benign
rs11939757387:33,192,305C/T—likely benign
rs13684109327:33,192,307C/T—likely benign
rs15626869297:33,192,311A/G—pathogenic
rs17935305027:33,192,314T/G—uncertain significance
rs15841796297:33,192,315A/G—likely pathogenic
rs13810398137:33,192,322T/G—uncertain significance
rs10289149247:33,192,336A/T—uncertain significance
rs1452412957:33,192,338G/A—uncertain significance
rs7580090967:33,192,344C/T—likely benign
rs7774099727:33,192,345C/G—uncertain significance
rs7567503597:33,192,355T/G—uncertain significance
rs21281081697:33,192,358G/T—uncertain significance
rs25352895477:33,192,360C/A—uncertain significance
rs25352896857:33,192,365T/C—likely benign
rs1488120317:33,192,374A/G—likely benign
rs7497277317:33,192,376C/A—uncertain significance
rs25352900677:33,192,377A/G—likely benign
rs7692560277:33,192,390C/T—pathogenic
rs3730637767:33,192,395C/T—conflicting classifications of pathogenicity
rs7735779747:33,192,396G/T—pathogenic
rs2008459107:33,192,398A/G—likely benign
rs25352905417:33,192,401T/C—likely benign
rs3757571237:33,192,405C/A—uncertain significance
rs7711297807:33,192,406T/C—uncertain significance
rs25352907397:33,192,407T/C—likely benign
rs25352908807:33,192,413A/G—likely benign
rs7652408717:33,192,414G/A—uncertain significance
rs9259689817:33,192,422A/G—likely benign
rs7750819927:33,192,423C/Tstop gainedpathogenic
rs25352912967:33,192,428T/C—likely benign
rs7639361707:33,192,431A/G—likely benign
rs3776260087:33,192,449A/T—likely benign
rs7669176977:33,192,451G/A—uncertain significance
rs25352918597:33,192,453A/C—uncertain significance
rs12556051797:33,192,459G/A—uncertain significance
rs21281084297:33,192,461T/G—likely benign
rs7499746977:33,192,463C/Astop gainedpathogenic
rs1379629297:33,192,464G/T—pathogenic
rs3709162937:33,192,467A/G—uncertain significance
rs3743838477:33,192,476A/T—likely benign
rs25352923697:33,192,479A/G—likely benign
rs171698817:33,192,502A/G—benign
rs102411887:33,192,591G/T—benign
rs342492177:33,192,600C/T—benign
rs127012757:33,195,119G/A—benign
rs7532472637:33,195,234T/G—likely benign
rs7590138297:33,195,236T/G—likely benign
rs25353273697:33,195,238T/G—likely benign
rs16559255667:33,195,239C/G—likely benign
rs25353274387:33,195,240T/C—likely benign
rs7782596307:33,195,246T/C—likely benign
rs7473988447:33,195,256C/T—likely benign
rs8860622837:33,195,258A/T—uncertain significance

Showing 100 of 852 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.