SMO

smoothened, frizzled class receptor

Summary

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75827493	7:128,828,578	T/G	—	likely benign
rs543363913	7:128,828,958	G/T	—	likely benign
rs1793442337	7:128,829,005	C/T	—	uncertain significance
rs1406355067	7:128,829,006	G/C	—	uncertain significance
rs2150637798	7:128,829,035	C/G	—	benign
rs41304185	7:128,829,066	A/G	—	benign
rs1195189361	7:128,829,104	G/T	—	uncertain significance
rs541359801	7:128,829,152	G/A	—	uncertain significance
rs1793446643	7:128,829,165	C/T	—	uncertain significance
rs1209374394	7:128,829,168	C/A	—	uncertain significance
rs2150638188	7:128,829,184	C/A	—	uncertain significance
rs1189276452	7:128,829,198	C/A	—	uncertain significance
rs980121505	7:128,829,236	G/C	—	uncertain significance
rs116115552	7:128,829,460	G/A	—	likely benign
rs55674128	7:128,842,982	G/T	—	likely benign
rs2566871	7:128,843,169	T/C	—	benign
rs45571737	7:128,843,277	T/C	—	likely benign
rs41303402	7:128,843,278	G/A	missense variant	uncertain significance
rs1793703823	7:128,843,285	T/C	—	uncertain significance
rs1793704781	7:128,843,323	C/T	—	uncertain significance
rs61746143	7:128,843,396	G/A	—	benign
rs2150646890	7:128,843,405	C/G	—	uncertain significance
rs2150646905	7:128,843,409	C/T	—	likely benign
rs143083812	7:128,843,410	C/T	—	uncertain significance
rs147491841	7:128,843,411	G/A	—	likely benign
rs115491500	7:128,843,429	C/T	—	uncertain significance
rs755206422	7:128,843,430	G/A	—	conflicting classifications of pathogenicity
rs13223446	7:128,844,953	A/C	—	likely benign
rs2703091	7:128,845,018	C/T	—	benign
rs1291088639	7:128,845,069	A/G	—	uncertain significance
rs56334250	7:128,845,088	A/G	—	benign
rs138284001	7:128,845,089	G/A	—	uncertain significance
rs148583945	7:128,845,097	G/A	—	uncertain significance
rs759466401	7:128,845,102	G/A	—	uncertain significance
rs1793744398	7:128,845,108	A/T	—	uncertain significance
rs56318556	7:128,845,127	C/T	—	likely benign
rs148484943	7:128,845,178	G/T	—	uncertain significance
rs1461296028	7:128,845,194	A/G	—	uncertain significance
rs142599757	7:128,845,210	C/T	—	uncertain significance
rs111482521	7:128,845,223	C/T	—	likely benign
rs371084806	7:128,845,229	G/A	—	uncertain significance
rs1162076106	7:128,845,230	G/T	—	uncertain significance
rs45541540	7:128,845,241	G/A	—	likely benign
rs2075777	7:128,845,277	G/C	—	benign
rs201383344	7:128,845,297	C/T	—	likely benign
rs34894139	7:128,845,299	T/C	—	benign
rs2566872	7:128,845,325	G/A	—	benign
rs1793751061	7:128,845,457	T/C	—	likely pathogenic
rs1161588469	7:128,845,474	G/A	—	uncertain significance
rs755698791	7:128,845,484	C/T	—	pathogenic
rs2150649037	7:128,845,487	T/C	—	uncertain significance
rs111694017	7:128,845,511	G/A	—	conflicting classifications of pathogenicity
rs1373021910	7:128,845,521	G/T	—	uncertain significance
rs45445295	7:128,845,555	A/G	—	likely benign
rs759508731	7:128,845,560	T/C	—	uncertain significance
rs764495218	7:128,845,583	G/A	—	uncertain significance
rs772693769	7:128,845,590	G/A	—	uncertain significance
rs754444361	7:128,845,604	A/G	—	uncertain significance
rs116744883	7:128,845,691	G/A	—	likely benign
rs2075778	7:128,845,702	C/T	—	benign
rs2075779	7:128,845,907	T/C	—	benign
rs371993481	7:128,846,049	G/A	—	uncertain significance
rs374812951	7:128,846,172	C/G	—	uncertain significance
rs1259349686	7:128,846,195	C/T	—	likely benign
rs146823157	7:128,846,202	G/A	—	uncertain significance
rs35678076	7:128,846,207	G/A	—	benign
rs530794787	7:128,846,217	T/C	—	likely benign
rs56358283	7:128,846,223	G/A	—	likely benign
rs1015335406	7:128,846,305	G/A	—	uncertain significance
rs2228617	7:128,846,328	G/C	synonymous variant	benign
rs766211091	7:128,846,362	C/T	—	likely pathogenic
rs117663825	7:128,846,367	G/C	—	likely benign
rs879255280	7:128,846,398	C/T	missense variant	pathogenic
rs1461109867	7:128,846,404	G/A	—	uncertain significance
rs199960351	7:128,846,412	C/G	—	likely benign
rs1382535412	7:128,846,419	C/T	—	uncertain significance
rs968935409	7:128,846,426	G/A	—	uncertain significance
rs2735842	7:128,846,469	A/G	—	benign
rs116059805	7:128,846,596	G/A	—	likely benign
rs540755083	7:128,846,671	C/T	—	likely benign
rs2735843	7:128,846,716	A/G	—	benign
rs75661386	7:128,848,391	T/C	—	likely benign
rs34989446	7:128,848,392	C/T	—	benign
rs1793814652	7:128,848,620	A/T	—	pathogenic
rs200510336	7:128,848,652	G/A	—	benign
rs1006687669	7:128,848,674	G/T	—	pathogenic
rs55987303	7:128,848,704	C/T	—	likely benign
rs768961568	7:128,849,127	C/T	—	uncertain significance
rs2150652853	7:128,849,177	T/C	—	uncertain significance
rs17710891	7:128,849,189	G/A	missense variant	not provided
rs552604250	7:128,849,234	G/A	—	uncertain significance
rs13242728	7:128,849,934	G/C	—	benign
rs4728158	7:128,850,084	T/G	—	benign
rs193242977	7:128,850,160	G/A	—	likely benign
rs13242765	7:128,850,167	A/G	—	benign
rs121918347	7:128,850,341	G/T	missense variant	pathogenic
rs138072219	7:128,850,837	C/T	—	uncertain significance
rs121918348	7:128,850,838	G/A	missense variant	pathogenic
rs2016607	7:128,850,875	T/C	—	benign
rs767688088	7:128,850,879	C/T	—	pathogenic

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.