SCNN1B

sodium channel epithelial 1 subunit beta

Summary

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

Known Variants275 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199647148	16:23,308,329	G/A	—	—
rs34241435	16:23,313,185	G/A	regulatory region variant	benign
rs72652275	16:23,313,495	G/A	—	benign
rs530631658	16:23,313,617	C/G	—	likely benign
rs72652279	16:23,313,996	C/G	—	benign
rs57825792	16:23,314,053	C/T	—	benign
rs72652281	16:23,314,247	A/T	—	likely benign
rs72652282	16:23,314,322	G/T	—	benign
rs3785368	16:23,320,780	G/A	intron variant	—
rs191563060	16:23,321,650	G/A	intron variant	—
rs239345	16:23,345,938	T/A	regulatory region variant	—
rs111356632	16:23,359,840	T/C	—	likely benign
rs564570566	16:23,359,926	C/T	—	conflicting classifications of pathogenicity
rs750974115	16:23,359,927	G/A	—	uncertain significance
rs144142075	16:23,359,974	C/T	—	likely benign
rs1006421696	16:23,359,993	C/G	—	uncertain significance
rs1962240610	16:23,360,004	G/A	—	pathogenic
rs2506410452	16:23,360,007	C/A	—	pathogenic
rs370777535	16:23,360,011	G/A	—	uncertain significance
rs137852706	16:23,360,029	G/A	missense variant	pathogenic
rs146431954	16:23,360,041	A/G	—	uncertain significance
rs80027401	16:23,360,067	A/G	—	likely benign
rs372994709	16:23,360,073	G/A	—	conflicting classifications of pathogenicity
rs749106839	16:23,360,079	C/T	—	uncertain significance
rs778937866	16:23,360,097	C/T	—	likely benign
rs72654321	16:23,360,101	G/A	—	likely benign
rs1039766661	16:23,360,107	G/A	—	uncertain significance
rs774946342	16:23,360,139	C/A	—	likely benign
rs35731153	16:23,360,165	C/G	missense variant	pathogenic
rs757137077	16:23,360,166	C/T	—	conflicting classifications of pathogenicity
rs1962246672	16:23,360,190	G/A	—	uncertain significance
rs1555487525	16:23,360,198	C/G	—	uncertain significance
rs238547	16:23,360,199	C/T	—	benign
rs139950628	16:23,360,202	C/T	—	likely benign
rs1192279473	16:23,360,219	C/A	—	uncertain significance
rs551701303	16:23,360,244	G/A	—	likely benign
rs79666800	16:23,360,443	T/A	—	likely benign
rs149095525	16:23,363,915	G/A	—	likely benign
rs63982	16:23,364,081	C/A	—	benign
rs746051982	16:23,364,173	T/G	—	likely benign
rs2506425503	16:23,364,177	C/A	—	uncertain significance
rs758735806	16:23,364,182	G/T	—	uncertain significance
rs2506425760	16:23,364,219	A/C	—	uncertain significance
rs199810483	16:23,364,238	C/T	—	conflicting classifications of pathogenicity
rs139310448	16:23,364,276	C/T	—	conflicting classifications of pathogenicity
rs765336896	16:23,364,277	G/A	—	conflicting classifications of pathogenicity
rs779082076	16:23,364,281	C/A	—	uncertain significance
rs772164903	16:23,364,321	C/T	—	uncertain significance
rs769240061	16:23,364,328	G/T	—	uncertain significance
rs748962184	16:23,364,340	G/A	—	uncertain significance
rs143007171	16:23,364,347	A/C	—	likely benign
rs2142020387	16:23,364,349	C/A	—	pathogenic
rs528582647	16:23,364,364	A/T	—	uncertain significance
rs773448523	16:23,364,371	C/T	—	conflicting classifications of pathogenicity
rs368632136	16:23,364,372	G/A	—	uncertain significance
rs2506427017	16:23,364,398	A/C	—	uncertain significance
rs11865186	16:23,364,623	A/C	—	likely benign
rs152745	16:23,366,422	G/A	—	benign
rs7188747	16:23,366,463	G/T	—	benign
rs2301601	16:23,366,528	C/G	—	benign
rs72654324	16:23,366,531	C/T	—	likely benign
rs371098444	16:23,366,605	T/C	—	conflicting classifications of pathogenicity
rs1015356051	16:23,366,624	G/C	—	likely benign
rs2506434607	16:23,366,641	T/C	—	uncertain significance
rs201279350	16:23,366,651	G/A	—	conflicting classifications of pathogenicity
rs746821073	16:23,366,691	C/T	—	likely benign
rs185554955	16:23,366,733	G/C	—	conflicting classifications of pathogenicity
rs752797855	16:23,366,754	C/A	—	likely pathogenic
rs757755874	16:23,366,758	G/A	—	uncertain significance
rs778102756	16:23,366,765	A/G	—	uncertain significance
rs141889317	16:23,366,772	C/T	—	likely benign
rs1962399992	16:23,366,782	C/G	—	uncertain significance
rs748167291	16:23,366,787	C/T	—	uncertain significance
rs373232226	16:23,366,788	G/A	—	uncertain significance
rs369198235	16:23,366,810	G/A	—	uncertain significance
rs1962400971	16:23,366,815	G/A	—	uncertain significance
rs1962401157	16:23,366,819	C/A	—	uncertain significance
rs35656934	16:23,366,851	C/T	—	likely benign
rs8062922	16:23,366,912	T/C	—	benign
rs1873999	16:23,378,866	G/A	—	benign
rs34077572	16:23,379,135	C/T	—	likely benign
rs61759915	16:23,379,172	T/C	—	likely benign
rs150781093	16:23,379,186	G/A	—	likely benign
rs137852709	16:23,379,200	C/T	missense variant	pathogenic
rs138004955	16:23,379,203	A/G	—	uncertain significance
rs2506470549	16:23,379,204	C/G	—	uncertain significance
rs757127779	16:23,379,236	T/C	—	uncertain significance
rs747059221	16:23,379,246	G/A	—	likely benign
rs142531781	16:23,379,257	C/T	—	uncertain significance
rs137852712	16:23,379,263	A/G	missense variant	pathogenic
rs369571760	16:23,379,265	C/T	—	uncertain significance
rs760398998	16:23,379,278	T/A	—	uncertain significance
rs250563	16:23,379,279	T/C	—	benign
rs72654338	16:23,379,280	G/A	missense variant	pathogenic
rs200089599	16:23,379,290	G/A	—	conflicting classifications of pathogenicity
rs201941596	16:23,379,298	G/A	—	likely benign
rs35989682	16:23,379,446	C/G	—	benign
rs239350	16:23,379,479	C/T	—	benign
rs250562	16:23,379,488	C/T	—	benign
rs889299	16:23,381,914	G/A	intron variant	—

Showing 100 of 275 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.