BMS1

BMS1 ribosome biogenesis factor

Summary

This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs375348243	10:43,279,902	G/T	—	uncertain significance
rs768824247	10:43,279,905	A/G	—	likely benign
rs769984487	10:43,279,928	T/G	—	uncertain significance
rs61736598	10:43,279,954	C/T	—	likely benign
rs756714741	10:43,279,956	G/A	—	likely benign
rs1214081050	10:43,279,986	G/A	—	likely benign
rs189363794	10:43,279,996	C/T	—	uncertain significance
rs1318841742	10:43,280,952	A/G	—	uncertain significance
rs1554792420	10:43,281,004	T/C	—	uncertain significance
rs201298233	10:43,281,013	T/C	—	likely benign
rs77961452	10:43,281,069	T/C	—	conflicting classifications of pathogenicity
rs375112560	10:43,281,076	G/A	—	uncertain significance
rs1363195094	10:43,281,109	C/T	—	uncertain significance
rs529159115	10:43,282,624	C/T	—	uncertain significance
rs755400315	10:43,282,625	G/A	—	uncertain significance
rs1349217853	10:43,285,772	T/C	—	uncertain significance
rs148810220	10:43,285,839	A/C	—	uncertain significance
rs779557609	10:43,285,882	G/A	—	uncertain significance
rs202106465	10:43,285,954	T/C	—	uncertain significance
rs186026471	10:43,285,969	G/T	—	likely benign
rs141772670	10:43,287,079	C/T	—	benign
rs2272881	10:43,287,148	G/A	—	benign
rs116522292	10:43,287,175	C/T	—	likely benign
rs763681834	10:43,287,209	G/T	—	likely benign
rs553896058	10:43,287,224	T/A	—	likely benign
rs565927861	10:43,287,225	A/G	—	likely benign
rs765143710	10:43,287,226	T/C	—	likely benign
rs368321000	10:43,287,973	G/A	—	uncertain significance
rs1378919734	10:43,287,976	C/G	—	uncertain significance
rs2538707033	10:43,287,978	A/G	—	uncertain significance
rs777954291	10:43,287,985	A/G	—	uncertain significance
rs1841538024	10:43,287,987	T/C	—	uncertain significance
rs148911479	10:43,288,009	A/G	—	likely benign
rs762499706	10:43,288,012	G/A	—	uncertain significance
rs1177497889	10:43,288,028	A/G	—	likely benign
rs188723250	10:43,288,401	C/T	—	likely benign
rs1841559386	10:43,288,429	A/G	—	uncertain significance
rs868779676	10:43,288,444	C/A	—	uncertain significance
rs1841563509	10:43,288,509	T/A	—	uncertain significance
rs781490170	10:43,288,514	G/A	—	likely benign
rs1448464480	10:43,288,533	G/C	—	uncertain significance
rs369748237	10:43,288,534	G/C	—	uncertain significance
rs1276923208	10:43,288,549	A/C	—	uncertain significance
rs761740381	10:43,288,569	C/T	—	uncertain significance
rs1194605534	10:43,288,583	C/T	—	likely benign
rs766426242	10:43,288,584	G/A	—	uncertain significance
rs377143978	10:43,288,587	T/C	—	uncertain significance
rs557474291	10:43,289,334	G/A	—	uncertain significance
rs199913378	10:43,289,339	A/C	—	uncertain significance
rs1385906611	10:43,289,354	A/T	—	uncertain significance
rs1841591997	10:43,289,367	A/G	—	uncertain significance
rs150622758	10:43,289,382	G/A	—	uncertain significance
rs139699494	10:43,289,388	C/T	—	uncertain significance
rs7921071	10:43,289,407	G/A	—	benign
rs774959000	10:43,289,424	A/G	—	uncertain significance
rs61736597	10:43,291,947	C/G	—	benign
rs186069238	10:43,291,962	A/G	—	uncertain significance
rs2538718938	10:43,291,963	C/G	—	uncertain significance
rs75335787	10:43,292,012	A/G	—	benign
rs749751423	10:43,292,055	G/A	—	likely benign
rs372823965	10:43,292,066	C/T	—	likely benign
rs2538719427	10:43,292,080	A/G	—	uncertain significance
rs765380765	10:43,292,094	G/A	—	uncertain significance
rs1326631538	10:43,292,125	T/C	—	uncertain significance
rs148644910	10:43,292,148	C/T	—	uncertain significance
rs142052016	10:43,292,192	A/G	—	benign
rs751387779	10:43,292,207	C/T	—	likely benign
rs758920366	10:43,292,236	A/T	—	uncertain significance
rs151134499	10:43,292,246	G/A	—	likely benign
rs772163888	10:43,292,292	G/C	—	uncertain significance
rs1470450295	10:43,292,297	G/A	—	likely benign
rs538370542	10:43,292,316	G/A	—	uncertain significance
rs139656912	10:43,292,337	G/A	—	benign
rs3814621	10:43,292,346	T/C	—	benign
rs767774070	10:43,292,366	T/C	—	benign
rs555586289	10:43,292,371	G/A	—	benign
rs780200897	10:43,292,394	C/G	—	uncertain significance
rs368223833	10:43,292,441	A/T	—	likely benign
rs111400882	10:43,292,451	G/C	—	benign
rs764849613	10:43,292,507	A/T	—	uncertain significance
rs140998042	10:43,292,542	T/C	—	uncertain significance
rs749515939	10:43,292,547	A/G	—	likely benign
rs200008126	10:43,292,568	G/A	—	uncertain significance
rs2538721437	10:43,292,578	T/C	—	uncertain significance
rs761006102	10:43,292,584	C/T	—	uncertain significance
rs142050206	10:43,292,675	G/A	—	benign
rs371559300	10:43,292,932	C/G	—	uncertain significance
rs1045173770	10:43,292,933	A/G	—	uncertain significance
rs17158189	10:43,293,602	A/G	intron variant	—
rs143300132	10:43,293,924	G/A	—	uncertain significance
rs1286643427	10:43,294,051	C/T	—	uncertain significance
rs117077206	10:43,295,064	C/T	intron variant	—
rs370533022	10:43,297,616	C/T	—	uncertain significance
rs2538733345	10:43,297,619	G/A	—	uncertain significance
rs41302249	10:43,297,639	G/A	—	benign
rs141419423	10:43,312,058	G/T	—	likely benign
rs147307707	10:43,312,113	A/G	—	conflicting classifications of pathogenicity
rs149685685	10:43,315,691	G/A	—	uncertain significance
rs145515531	10:43,315,692	C/T	—	benign
rs117641896	10:43,315,693	G/A	—	benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.