SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

Summary

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]

Known Variants1,408 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs186949565	2:39,189,945	G/A	—	likely benign
rs866921635	2:39,189,990	C/A	—	likely benign
rs377303107	2:39,208,700	T/C	—	uncertain significance
rs565544523	2:39,208,744	G/A	—	likely benign
rs886056003	2:39,208,855	G/T	—	uncertain significance
rs763838346	2:39,208,888	C/A	—	uncertain significance
rs1040937396	2:39,208,889	G/A	—	uncertain significance
rs1043800	2:39,208,942	A/G	—	conflicting classifications of pathogenicity
rs186738827	2:39,208,951	A/G	—	uncertain significance
rs751112874	2:39,208,976	C/G	—	uncertain significance
rs1043793	2:39,209,047	A/G	—	benign
rs1297949357	2:39,209,154	A/G	—	uncertain significance
rs1034733063	2:39,209,215	A/G	—	uncertain significance
rs886056004	2:39,209,238	C/G	—	uncertain significance
rs72799430	2:39,209,240	A/G	—	uncertain significance
rs11124658	2:39,209,241	G/A	—	benign
rs550315455	2:39,209,373	G/A	—	likely benign
rs115465194	2:39,209,396	A/G	—	likely benign
rs1037495	2:39,209,426	A/G	—	benign
rs886056006	2:39,209,502	T/C	—	uncertain significance
rs114232209	2:39,209,507	T/G	—	likely benign
rs78411167	2:39,209,514	T/A	—	conflicting classifications of pathogenicity
rs145904123	2:39,209,598	C/T	—	likely benign
rs1668433787	2:39,209,639	A/G	—	uncertain significance
rs748136708	2:39,209,674	G/A	—	uncertain significance
rs769883659	2:39,209,713	T/G	—	uncertain significance
rs1572793043	2:39,209,735	A/G	—	uncertain significance
rs913024422	2:39,209,807	A/G	—	uncertain significance
rs541644361	2:39,209,816	G/A	—	conflicting classifications of pathogenicity
rs1167439482	2:39,209,924	T/G	—	uncertain significance
rs190454003	2:39,209,982	G/A	—	likely benign
rs1668445130	2:39,210,072	G/T	—	uncertain significance
rs141841546	2:39,210,303	C/T	—	uncertain significance
rs539933930	2:39,210,391	T/C	—	likely benign
rs6704656	2:39,210,398	A/T	—	benign
rs150628082	2:39,210,448	G/A	—	likely benign
rs1239076061	2:39,210,453	G/T	—	uncertain significance
rs886056008	2:39,210,468	C/T	—	uncertain significance
rs1020523755	2:39,210,708	G/C	—	uncertain significance
rs1668462557	2:39,210,719	T/A	—	uncertain significance
rs886056009	2:39,210,747	A/T	—	uncertain significance
rs116651056	2:39,210,805	G/A	—	likely benign
rs184227916	2:39,210,827	C/A	—	likely benign
rs532255169	2:39,210,909	T/G	—	uncertain significance
rs1285805260	2:39,210,967	C/A	—	uncertain significance
rs10166395	2:39,211,121	C/T	—	benign
rs374339697	2:39,211,203	T/G	—	uncertain significance
rs79270739	2:39,211,234	C/T	—	likely benign
rs886056012	2:39,211,281	C/G	—	uncertain significance
rs886056013	2:39,211,287	G/T	—	uncertain significance
rs183111109	2:39,211,313	T/A	—	uncertain significance
rs760193823	2:39,211,324	T/C	—	uncertain significance
rs886056014	2:39,211,376	A/C	—	uncertain significance
rs139679723	2:39,211,413	A/T	—	likely benign
rs1668487434	2:39,211,430	C/T	—	uncertain significance
rs550823381	2:39,211,449	C/T	—	likely benign
rs1029291502	2:39,211,488	C/T	—	uncertain significance
rs1668490693	2:39,211,553	T/C	—	uncertain significance
rs974302565	2:39,211,569	C/A	—	uncertain significance
rs1033636331	2:39,211,574	G/A	—	uncertain significance
rs868000333	2:39,211,580	T/C	—	uncertain significance
rs145273962	2:39,211,656	T/C	—	conflicting classifications of pathogenicity
rs115153488	2:39,211,662	G/T	—	conflicting classifications of pathogenicity
rs1019150969	2:39,211,695	A/G	—	uncertain significance
rs886056015	2:39,211,741	T/C	—	uncertain significance
rs539192287	2:39,211,880	T/C	—	likely benign
rs992013519	2:39,211,916	C/A	—	uncertain significance
rs147219108	2:39,212,056	C/T	—	uncertain significance
rs961299565	2:39,212,092	G/A	—	uncertain significance
rs886056017	2:39,212,110	C/T	—	uncertain significance
rs1059313	2:39,212,160	G/T	—	benign
rs182650589	2:39,212,207	T/A	—	conflicting classifications of pathogenicity
rs886056018	2:39,212,269	C/T	—	uncertain significance
rs771800455	2:39,212,301	G/A	—	uncertain significance
rs886056019	2:39,212,323	A/G	—	uncertain significance
rs572880679	2:39,212,406	G/A	—	uncertain significance
rs886056020	2:39,212,421	G/A	—	uncertain significance
rs773935049	2:39,212,431	G/A	—	conflicting classifications of pathogenicity
rs1668521466	2:39,212,482	T/G	—	uncertain significance
rs973373222	2:39,212,544	T/C	—	uncertain significance
rs1572795423	2:39,212,557	G/A	—	uncertain significance
rs1059310	2:39,212,637	C/T	—	benign
rs886056021	2:39,212,667	G/C	—	uncertain significance
rs1264452853	2:39,212,735	A/G	—	uncertain significance
rs886056022	2:39,212,742	G/A	—	uncertain significance
rs1258255790	2:39,212,747	A/C	—	uncertain significance
rs556367844	2:39,212,780	T/C	—	uncertain significance
rs1027688901	2:39,212,814	G/T	—	benign
rs1668534690	2:39,212,855	G/T	—	uncertain significance
rs182657531	2:39,212,921	A/G	—	likely benign
rs532419541	2:39,212,944	T/C	—	uncertain significance
rs2528868453	2:39,212,952	A/G	—	uncertain significance
rs1057522437	2:39,212,953	G/A	—	likely benign
rs1057521160	2:39,212,957	A/G	—	likely benign
rs188849286	2:39,212,961	G/A	—	benign
rs2124453911	2:39,212,969	G/A	—	uncertain significance
rs1057522315	2:39,212,971	A/G	—	likely benign
rs936986823	2:39,212,980	A/T	—	uncertain significance
rs1191984233	2:39,212,987	A/G	—	uncertain significance
rs1371048349	2:39,212,990	A/G	—	uncertain significance

Showing 100 of 1,408 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.