GINS1

GINS complex subunit 1

Summary

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7270419	20:25,387,242	G/A	upstream gene variant	—
rs2146178281	20:25,388,397	A/G	—	pathogenic
rs974304393	20:25,388,409	C/G	—	pathogenic
rs566013066	20:25,388,457	A/G	—	uncertain significance
rs2516008420	20:25,388,462	C/G	—	uncertain significance
rs929875804	20:25,388,472	G/T	—	uncertain significance
rs369461117	20:25,388,475	A/G	—	uncertain significance
rs779358133	20:25,388,481	C/T	—	likely benign
rs752803071	20:25,388,485	T/G	—	uncertain significance
rs778068914	20:25,388,499	C/A	—	uncertain significance
rs1167848132	20:25,388,512	G/A	—	uncertain significance
rs1462176440	20:25,388,519	G/A	—	likely benign
rs775522019	20:25,388,523	G/A	—	uncertain significance
rs1399774021	20:25,388,529	A/G	—	uncertain significance
rs2090256889	20:25,388,537	G/A	—	uncertain significance
rs768628231	20:25,394,408	T/C	—	likely benign
rs773786693	20:25,394,409	C/T	—	likely benign
rs761351287	20:25,394,410	G/A	—	likely benign
rs903558447	20:25,394,411	G/A	—	likely benign
rs2090302653	20:25,394,423	T/C	—	uncertain significance
rs1160088781	20:25,394,431	T/C	—	likely benign
rs1173010486	20:25,394,444	G/C	—	uncertain significance
rs2516019663	20:25,394,447	C/G	—	uncertain significance
rs140932797	20:25,394,454	A/G	—	benign
rs190474037	20:25,394,456	A/G	—	uncertain significance
rs569829684	20:25,394,476	A/G	—	likely benign
rs751622371	20:25,394,484	C/G	—	uncertain significance
rs1321578047	20:25,394,491	G/A	—	uncertain significance
rs2516019790	20:25,394,502	A/G	—	likely benign
rs369708760	20:25,394,505	A/G	—	likely benign
rs927512586	20:25,397,730	C/T	—	likely benign
rs376545897	20:25,397,731	T/G	—	likely benign
rs753713701	20:25,397,732	C/T	—	likely benign
rs778726663	20:25,397,740	G/A	—	uncertain significance
rs554501561	20:25,397,742	A/G	—	uncertain significance
rs758261812	20:25,397,748	C/T	—	uncertain significance
rs202022284	20:25,397,757	G/A	—	uncertain significance
rs200137375	20:25,397,759	G/A	—	uncertain significance
rs368823946	20:25,397,763	G/A	—	uncertain significance
rs774576938	20:25,397,771	T/C	—	likely benign
rs1282406957	20:25,397,774	A/T	—	uncertain significance
rs1216064805	20:25,397,778	C/G	—	uncertain significance
rs762444035	20:25,397,780	A/C	—	uncertain significance
rs1196776724	20:25,397,784	T/C	—	uncertain significance
rs766725581	20:25,397,792	C/T	—	uncertain significance
rs186289957	20:25,397,793	G/C	—	uncertain significance
rs2516024941	20:25,397,795	C/T	—	uncertain significance
rs1384006195	20:25,397,796	A/C	—	uncertain significance
rs759250993	20:25,397,798	T/G	—	uncertain significance
rs2516025008	20:25,397,804	C/T	—	likely benign
rs201272727	20:25,397,817	G/A	—	uncertain significance
rs372527591	20:25,397,819	C/T	—	uncertain significance
rs1404613931	20:25,397,837	C/T	—	uncertain significance
rs756699530	20:25,397,839	G/T	—	uncertain significance
rs901720760	20:25,397,845	T/C	—	likely benign
rs201876137	20:25,398,728	C/T	—	likely benign
rs1158698694	20:25,398,745	G/T	—	uncertain significance
rs2516026813	20:25,398,746	A/G	—	uncertain significance
rs137901350	20:25,398,748	C/T	missense variant	pathogenic
rs201539344	20:25,398,753	G/A	—	likely benign
rs745902910	20:25,398,756	T/C	—	likely benign
rs967614894	20:25,398,757	C/T	—	uncertain significance
rs770084857	20:25,398,758	G/A	—	uncertain significance
rs569373463	20:25,398,765	A/G	—	likely benign
rs775525859	20:25,398,766	G/C	—	uncertain significance
rs2516026937	20:25,398,769	C/T	—	uncertain significance
rs2090332970	20:25,398,774	A/T	—	uncertain significance
rs774120725	20:25,398,778	G/A	—	uncertain significance
rs2090333009	20:25,398,782	A/G	—	uncertain significance
rs367952564	20:25,398,785	G/A	—	uncertain significance
rs113363253	20:25,398,789	C/T	—	likely benign
rs6076347	20:25,398,790	G/A	—	benign
rs2090333232	20:25,398,792	C/T	—	likely benign
rs1189374707	20:25,398,796	C/T	—	uncertain significance
rs910279883	20:25,398,799	A/G	—	uncertain significance
rs2516027054	20:25,398,800	A/G	—	uncertain significance
rs1166000258	20:25,398,801	T/C	—	likely benign
rs747353819	20:25,398,808	C/T	—	uncertain significance
rs757877116	20:25,398,809	G/A	—	uncertain significance
rs781511029	20:25,398,817	A/G	—	uncertain significance
rs745982521	20:25,398,829	G/A	—	uncertain significance
rs775633874	20:25,398,842	A/G	—	likely benign
rs1272327074	20:25,398,844	T/C	—	likely benign
rs4815425	20:25,398,876	G/C	—	benign
rs1888995	20:25,400,487	A/G	intron variant	—
rs2047586279	20:25,405,838	T/C	—	likely benign
rs2090383815	20:25,405,844	C/T	—	uncertain significance
rs999587922	20:25,405,852	G/A	—	likely benign
rs771692957	20:25,405,869	A/G	—	uncertain significance
rs773059323	20:25,405,873	A/G	—	likely benign
rs2516038429	20:25,405,881	C/T	—	uncertain significance
rs2146206332	20:25,405,884	C/G	—	uncertain significance
rs2090384200	20:25,405,887	A/T	—	uncertain significance
rs2516038470	20:25,405,888	T/C	—	likely benign
rs770881919	20:25,405,895	T/G	—	uncertain significance
rs759079120	20:25,405,898	C/A	—	uncertain significance
rs376943654	20:25,405,899	T/A	—	uncertain significance
rs752339835	20:25,405,916	T/C	—	likely benign
rs2146206396	20:25,405,920	A/G	—	uncertain significance
rs750776640	20:25,405,932	A/G	—	uncertain significance

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

Gene information from NCBI Gene. Variant classifications from ClinVar.