BNC2

basonuclin zinc finger protein 2

Summary

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

Known Variants310 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2547634058	9:16,418,994	A/G	—	uncertain significance
rs766769136	9:16,419,192	T/C	—	uncertain significance
rs2547635390	9:16,419,195	C/G	—	uncertain significance
rs372397169	9:16,419,198	C/T	—	uncertain significance
rs778188351	9:16,419,214	A/G	—	uncertain significance
rs1359540880	9:16,419,229	A/C	—	uncertain significance
rs1214572092	9:16,419,261	G/A	—	uncertain significance
rs181254955	9:16,419,263	G/A	—	benign
rs200106312	9:16,419,265	C/T	—	uncertain significance
rs552303945	9:16,419,268	C/T	—	uncertain significance
rs143280183	9:16,419,270	G/A	—	benign
rs141433324	9:16,419,281	C/T	—	likely benign
rs752799809	9:16,419,282	G/A	—	uncertain significance
rs534810855	9:16,419,310	T/C	—	uncertain significance
rs768118338	9:16,419,314	A/G	—	likely benign
rs368842595	9:16,419,335	G/A	—	likely benign
rs35005898	9:16,419,367	C/T	—	benign
rs199809062	9:16,419,485	G/A	—	benign
rs41268965	9:16,419,498	T/C	—	likely benign
rs138000896	9:16,419,499	C/T	—	conflicting classifications of pathogenicity
rs117452684	9:16,419,519	A/G	—	uncertain significance
rs370230174	9:16,419,526	A/G	—	uncertain significance
rs138887153	9:16,419,527	T/C	—	uncertain significance
rs189895388	9:16,419,548	G/A	—	likely benign
rs142906838	9:16,419,549	C/T	—	uncertain significance
rs144217211	9:16,419,554	G/T	—	conflicting classifications of pathogenicity
rs1350302922	9:16,419,563	A/G	—	likely benign
rs148292840	9:16,419,564	A/C	—	uncertain significance
rs542038873	9:16,419,576	G/A	—	uncertain significance
rs112319445	9:16,419,588	C/A	—	uncertain significance
rs2547639248	9:16,419,602	T/C	—	likely benign
rs2547639312	9:16,419,611	C/A	—	uncertain significance
rs755792115	9:16,419,621	C/T	—	uncertain significance
rs779084645	9:16,419,622	G/A	—	uncertain significance
rs1563774686	9:16,419,624	T/C	—	pathogenic
rs1350162888	9:16,435,054	G/A	—	pathogenic
rs73415418	9:16,435,057	G/A	—	likely benign
rs773920007	9:16,435,544	T/C	—	likely benign
rs565215420	9:16,435,568	C/T	—	uncertain significance
rs753320673	9:16,435,609	G/A	—	likely benign
rs746276768	9:16,435,651	A/G	—	likely benign
rs774500854	9:16,435,693	T/G	—	uncertain significance
rs1233001759	9:16,435,705	G/A	—	likely benign
rs3739715	9:16,435,714	C/T	—	benign
rs2130847008	9:16,435,747	G/A	—	likely benign
rs144355383	9:16,435,762	C/T	—	likely benign
rs146878452	9:16,435,803	C/G	—	uncertain significance
rs889762379	9:16,435,820	T/C	—	uncertain significance
rs140694690	9:16,435,821	A/G	—	likely benign
rs1439973322	9:16,435,823	T/C	—	uncertain significance
rs367993561	9:16,435,838	A/G	—	uncertain significance
rs776963457	9:16,435,839	T/A	—	uncertain significance
rs371557826	9:16,435,843	G/A	—	benign
rs3739714	9:16,435,848	T/C	—	benign
rs754125807	9:16,435,881	C/T	—	uncertain significance
rs199800113	9:16,435,902	T/C	—	uncertain significance
rs769566701	9:16,435,913	T/A	—	uncertain significance
rs775161242	9:16,435,919	C/T	—	uncertain significance
rs773966394	9:16,435,928	T/G	—	uncertain significance
rs1245740622	9:16,435,969	A/C	—	uncertain significance
rs554243088	9:16,435,971	C/T	—	uncertain significance
rs191305289	9:16,435,984	T/C	—	benign
rs376030025	9:16,435,990	G/A	—	not provided
rs768688801	9:16,436,005	C/T	—	likely benign
rs142534651	9:16,436,019	C/T	—	uncertain significance
rs2547712294	9:16,436,028	A/C	—	uncertain significance
rs147575972	9:16,436,033	C/T	—	likely benign
rs145645768	9:16,436,068	G/A	—	benign
rs372768243	9:16,436,072	C/T	—	uncertain significance
rs781317873	9:16,436,076	T/G	—	likely benign
rs2547712584	9:16,436,084	G/A	—	uncertain significance
rs548745485	9:16,436,099	C/T	—	uncertain significance
rs145916043	9:16,436,122	G/C	—	uncertain significance
rs1312633813	9:16,436,136	T/G	—	uncertain significance
rs138187836	9:16,436,141	G/A	—	uncertain significance
rs774757602	9:16,436,148	T/A	—	conflicting classifications of pathogenicity
rs141312504	9:16,436,189	T/C	—	uncertain significance
rs1440026546	9:16,436,210	T/C	—	uncertain significance
rs141360036	9:16,436,212	G/A	—	likely benign
rs774745887	9:16,436,219	T/A	—	uncertain significance
rs773547795	9:16,436,242	G/A	—	benign
rs138108118	9:16,436,244	C/T	—	benign
rs62540608	9:16,436,245	A/G	—	likely benign
rs754026235	9:16,436,252	A/G	—	uncertain significance
rs2547713805	9:16,436,285	G/C	—	uncertain significance
rs966384737	9:16,436,318	G/T	—	uncertain significance
rs114596065	9:16,436,324	G/T	—	likely benign
rs142872531	9:16,436,374	C/T	—	likely benign
rs116528562	9:16,436,375	G/A	—	benign
rs1354503587	9:16,436,376	G/A	—	uncertain significance
rs1231082021	9:16,436,379	G/A	—	uncertain significance
rs367562679	9:16,436,390	A/G	—	uncertain significance
rs148257304	9:16,436,391	T/C	—	benign
rs2547714521	9:16,436,416	A/T	—	uncertain significance
rs1405776484	9:16,436,432	G/C	—	uncertain significance
rs483353012	9:16,436,454	C/T	—	not provided
rs1438172570	9:16,436,487	C/T	—	uncertain significance
rs1017712544	9:16,436,531	A/T	—	uncertain significance
rs4961490	9:16,436,544	A/C	—	likely benign
rs1252362081	9:16,436,555	A/G	—	uncertain significance

Showing 100 of 310 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.