BBS1

Bardet-Biedl syndrome 1

Summary

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

Known Variants814 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4542420	11:66,277,610	G/T	—	—
rs55853079	11:66,277,969	C/T	—	benign
rs1791688	11:66,278,059	C/G	—	benign
rs549210746	11:66,278,128	A/G	—	uncertain significance
rs1306821707	11:66,278,131	A/T	—	pathogenic
rs1222159281	11:66,278,132	T/C	—	pathogenic
rs1855918305	11:66,278,133	G/A	—	pathogenic
rs143592479	11:66,278,136	C/T	—	conflicting classifications of pathogenicity
rs562874449	11:66,278,137	G/T	—	uncertain significance
rs745375133	11:66,278,140	G/T	—	uncertain significance
rs754161831	11:66,278,142	G/A	—	likely benign
rs755308059	11:66,278,144	C/T	—	uncertain significance
rs758441011	11:66,278,148	A/G	—	likely benign
rs745789744	11:66,278,151	G/T	—	likely benign
rs55848325	11:66,278,154	T/C	—	conflicting classifications of pathogenicity
rs373772468	11:66,278,157	C/T	—	likely benign
rs1360969412	11:66,278,160	C/T	—	likely benign
rs150122944	11:66,278,162	C/T	—	uncertain significance
rs1336755113	11:66,278,163	C/A	—	likely benign
rs377507675	11:66,278,165	G/A	—	uncertain significance
rs1590753542	11:66,278,166	C/T	—	likely benign
rs774110999	11:66,278,171	C/G	—	conflicting classifications of pathogenicity
rs761601575	11:66,278,173	G/A	—	uncertain significance
rs767116799	11:66,278,175	G/A	—	likely benign
rs772917364	11:66,278,176	A/T	—	likely pathogenic
rs1475257145	11:66,278,178	G/T	—	pathogenic
rs1182864166	11:66,278,179	T/C	—	likely pathogenic
rs370342126	11:66,278,184	G/C	—	likely benign
rs2495726392	11:66,278,185	C/T	—	uncertain significance
rs755329603	11:66,278,186	A/T	—	likely benign
rs2495726412	11:66,278,189	G/A	—	likely benign
rs1183292455	11:66,278,192	C/A	—	likely benign
rs1855921015	11:66,278,193	C/T	—	likely benign
rs970767838	11:66,278,196	A/G	—	likely benign
rs1250037505	11:66,278,197	A/C	—	likely benign
rs187667848	11:66,278,303	A/C	regulatory region variant	—
rs1855930387	11:66,278,466	T/C	—	likely benign
rs1855930554	11:66,278,471	C/A	—	likely benign
rs760009418	11:66,278,473	C/T	—	likely benign
rs2495727913	11:66,278,474	C/T	—	likely benign
rs765571574	11:66,278,475	C/A	—	conflicting classifications of pathogenicity
rs753125999	11:66,278,476	A/G	—	likely benign
rs2134765142	11:66,278,477	C/T	—	likely benign
rs763314002	11:66,278,480	C/G	—	likely benign
rs869025204	11:66,278,481	C/G	—	pathogenic
rs764245266	11:66,278,482	A/C	splice region variant	pathogenic
rs751753112	11:66,278,483	G/T	—	pathogenic
rs200255383	11:66,278,484	C/T	—	uncertain significance
rs2134765186	11:66,278,487	T/C	—	likely benign
rs761128852	11:66,278,490	G/A	—	likely benign
rs755026677	11:66,278,493	C/G	—	likely benign
rs879216710	11:66,278,495	A/G	—	conflicting classifications of pathogenicity
rs2134765230	11:66,278,499	G/A	—	likely benign
rs2495728058	11:66,278,502	G/A	—	likely benign
rs778850233	11:66,278,504	G/A	—	pathogenic
rs2495728074	11:66,278,505	G/A	—	likely pathogenic
rs747891096	11:66,278,506	T/C	—	likely benign
rs1855932058	11:66,278,507	T/A	—	likely pathogenic
rs772010847	11:66,278,511	T/A	—	uncertain significance
rs866558676	11:66,278,513	C/T	—	uncertain significance
rs1263024783	11:66,278,519	A/G	—	uncertain significance
rs771560964	11:66,278,520	C/T	—	likely benign
rs368510687	11:66,278,524	C/A	—	uncertain significance
rs1319049359	11:66,278,529	G/C	—	uncertain significance
rs776061360	11:66,278,532	C/T	—	likely benign
rs760081811	11:66,278,538	C/T	—	likely benign
rs775990952	11:66,278,540	A/G	—	uncertain significance
rs1342061217	11:66,278,541	C/T	—	likely benign
rs370608923	11:66,278,547	T/C	—	likely benign
rs1224146191	11:66,278,556	C/T	—	likely benign
rs1057516449	11:66,278,561	G/C	—	pathogenic
rs2495728323	11:66,278,569	C/T	—	likely benign
rs1479928467	11:66,278,571	G/A	—	likely benign
rs751779071	11:66,278,573	A/G	—	likely benign
rs1374531142	11:66,278,577	A/C	—	likely benign
rs776909699	11:66,278,578	G/A	—	likely benign
rs761993639	11:66,278,579	G/C	—	likely benign
rs2495728797	11:66,278,658	G/T	—	likely benign
rs2495728814	11:66,278,661	C/T	—	likely benign
rs190639799	11:66,278,662	C/T	—	benign
rs762092708	11:66,278,665	T/C	—	likely benign
rs759208852	11:66,278,667	G/A	—	likely benign
rs2134765678	11:66,278,672	C/T	—	likely benign
rs1855936862	11:66,278,678	C/G	—	uncertain significance
rs2134765700	11:66,278,683	A/G	—	likely benign
rs1590754166	11:66,278,689	A/G	—	likely benign
rs2134765721	11:66,278,695	G/A	—	likely benign
rs2495728948	11:66,278,701	G/A	—	likely benign
rs760793954	11:66,278,703	A/C	—	uncertain significance
rs2495728971	11:66,278,707	C/T	—	likely benign
rs766602837	11:66,278,708	A/G	—	uncertain significance
rs1262106058	11:66,278,710	G/A	—	uncertain significance
rs2495728996	11:66,278,711	G/A	—	likely pathogenic
rs1057516507	11:66,278,712	T/A	—	pathogenic
rs2495729012	11:66,278,714	A/G	—	uncertain significance
rs1565280409	11:66,278,721	C/T	—	likely benign
rs1855938272	11:66,278,723	C/A	—	likely benign
rs758468091	11:66,278,724	C/T	—	likely benign
rs751245532	11:66,278,725	C/A	—	likely benign
rs2495729081	11:66,278,726	T/A	—	likely benign

Showing 100 of 814 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.