WHRN

whirlin

Summary

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Known Variants747 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063366	9:117,164,401	A/G	—	uncertain significance
rs1042938459	9:117,164,421	T/C	—	uncertain significance
rs567156879	9:117,164,451	G/A	—	uncertain significance
rs886063367	9:117,164,480	G/A	—	uncertain significance
rs954067626	9:117,164,539	A/G	—	uncertain significance
rs114641960	9:117,164,596	A/C	—	benign
rs886063368	9:117,164,677	G/C	—	uncertain significance
rs774074739	9:117,164,695	G/T	—	uncertain significance
rs549537695	9:117,164,846	T/A	—	uncertain significance
rs779279060	9:117,164,847	T/C	—	uncertain significance
rs1834755674	9:117,164,859	G/A	—	uncertain significance
rs567661962	9:117,164,878	C/T	—	uncertain significance
rs563858014	9:117,164,885	T/C	—	uncertain significance
rs1834758281	9:117,164,908	G/T	—	uncertain significance
rs529176890	9:117,164,983	G/A	—	conflicting classifications of pathogenicity
rs549195233	9:117,164,997	G/C	—	conflicting classifications of pathogenicity
rs760640463	9:117,165,005	A/C	—	uncertain significance
rs727505255	9:117,165,036	A/G	—	uncertain significance
rs2491480810	9:117,165,057	T/G	—	uncertain significance
rs781583583	9:117,165,068	T/G	—	uncertain significance
rs756666810	9:117,165,072	T/C	—	uncertain significance
rs773620841	9:117,165,080	C/T	—	uncertain significance
rs138323921	9:117,165,081	G/A	—	uncertain significance
rs1834766525	9:117,165,085	C/G	—	uncertain significance
rs200354989	9:117,165,093	T/C	—	uncertain significance
rs920350403	9:117,165,102	C/T	—	uncertain significance
rs775402871	9:117,165,103	G/A	—	conflicting classifications of pathogenicity
rs143464875	9:117,165,105	C/T	—	uncertain significance
rs1474851442	9:117,165,106	G/A	—	likely benign
rs760928525	9:117,165,113	C/T	—	uncertain significance
rs150586098	9:117,165,114	G/A	—	conflicting classifications of pathogenicity
rs200551948	9:117,165,117	C/T	—	uncertain significance
rs1164818851	9:117,165,118	G/A	—	likely benign
rs138731082	9:117,165,125	C/T	—	uncertain significance
rs765930159	9:117,165,127	G/A	—	likely benign
rs756466784	9:117,165,137	C/G	—	uncertain significance
rs142732176	9:117,165,138	C/T	—	uncertain significance
rs1301232723	9:117,165,140	C/T	—	uncertain significance
rs267602096	9:117,165,141	G/A	—	uncertain significance
rs144559047	9:117,165,142	A/C	—	likely benign
rs1834772445	9:117,165,145	C/A	—	likely benign
rs140344596	9:117,165,146	G/A	—	uncertain significance
rs779001003	9:117,165,147	T/C	—	uncertain significance
rs117592152	9:117,165,172	G/T	—	likely benign
rs1475454871	9:117,165,176	C/T	—	uncertain significance
rs776712642	9:117,165,187	C/A	—	uncertain significance
rs727504817	9:117,165,189	G/A	—	uncertain significance
rs371373433	9:117,165,191	C/A	—	uncertain significance
rs772831300	9:117,165,196	G/T	—	uncertain significance
rs2132183000	9:117,165,202	A/G	—	likely benign
rs762342970	9:117,165,204	C/T	—	uncertain significance
rs766123228	9:117,165,210	C/T	—	uncertain significance
rs751201674	9:117,165,211	G/A	—	likely benign
rs1250528376	9:117,165,217	C/T	—	uncertain significance
rs2491483395	9:117,165,224	G/C	—	likely benign
rs1834778185	9:117,165,231	C/A	—	likely benign
rs41278663	9:117,165,363	A/G	—	likely benign
rs1834793822	9:117,165,480	G/A	—	likely benign
rs1233031355	9:117,165,481	G/A	—	likely benign
rs748887578	9:117,165,482	C/A	—	likely benign
rs985879604	9:117,165,484	C/T	—	likely benign
rs1243315918	9:117,165,494	T/C	—	uncertain significance
rs545326842	9:117,165,498	T/C	—	uncertain significance
rs55749855	9:117,165,528	C/T	—	uncertain significance
rs750834235	9:117,165,529	G/A	—	uncertain significance
rs755304293	9:117,165,539	G/A	—	likely benign
rs781538079	9:117,165,546	T/C	—	uncertain significance
rs748047192	9:117,165,547	C/T	—	uncertain significance
rs1439979867	9:117,165,548	G/A	—	likely benign
rs139597771	9:117,165,553	C/A	—	uncertain significance
rs777780045	9:117,165,554	G/A	—	likely benign
rs560829513	9:117,165,562	G/A	—	likely benign
rs200422759	9:117,165,564	G/C	—	uncertain significance
rs144207463	9:117,165,569	C/T	—	likely benign
rs147387623	9:117,165,577	T/G	—	uncertain significance
rs2132185657	9:117,165,581	C/T	—	likely benign
rs1589057203	9:117,165,583	C/T	—	likely benign
rs762248099	9:117,165,585	C/T	—	uncertain significance
rs765450036	9:117,165,587	G/A	—	likely benign
rs1834802444	9:117,165,590	C/T	—	likely benign
rs61743618	9:117,165,599	C/T	—	conflicting classifications of pathogenicity
rs143728180	9:117,165,600	G/A	—	conflicting classifications of pathogenicity
rs1386925668	9:117,165,609	A/G	—	uncertain significance
rs569112844	9:117,165,619	G/C	—	uncertain significance
rs767910166	9:117,165,624	G/A	—	uncertain significance
rs1834804965	9:117,165,637	G/A	—	likely benign
rs55833018	9:117,165,737	C/T	—	benign
rs10739410	9:117,166,034	T/C	—	benign
rs2132189654	9:117,166,159	T/G	—	likely benign
rs371670273	9:117,166,162	T/C	—	likely benign
rs876657772	9:117,166,173	C/T	—	uncertain significance
rs373754936	9:117,166,176	C/T	—	uncertain significance
rs149897775	9:117,166,177	G/A	—	uncertain significance
rs752996781	9:117,166,182	G/A	—	conflicting classifications of pathogenicity
rs1834841769	9:117,166,184	T/G	—	uncertain significance
rs776704064	9:117,166,195	G/A	—	uncertain significance
rs2491495657	9:117,166,197	G/A	—	likely benign
rs1158884691	9:117,166,200	C/T	—	likely benign
rs375820423	9:117,166,204	T/C	—	uncertain significance
rs753642608	9:117,166,205	C/T	—	uncertain significance

Showing 100 of 747 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.