SKI

SKI proto-oncogene

Summary

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]

Known Variants893 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs866291734	1:2,160,157	G/T	—	likely benign
rs1569656260	1:2,160,160	C/T	—	likely benign
rs1057524624	1:2,160,164	G/A	—	likely benign
rs1057524766	1:2,160,178	G/T	—	likely benign
rs1003998999	1:2,160,187	G/A	—	likely benign
rs1246353625	1:2,160,195	C/G	—	likely benign
rs1553189801	1:2,160,213	C/T	—	uncertain significance
rs962256287	1:2,160,214	G/C	—	likely benign
rs1638560343	1:2,160,215	G/C	—	uncertain significance
rs1085307767	1:2,160,216	C/T	—	uncertain significance
rs1194059387	1:2,160,217	G/A	—	likely benign
rs2100789382	1:2,160,218	G/A	—	uncertain significance
rs1202073334	1:2,160,220	A/G	—	likely benign
rs2100789403	1:2,160,224	G/A	—	uncertain significance
rs973598276	1:2,160,226	C/T	—	likely benign
rs1254990952	1:2,160,227	C/G	—	uncertain significance
rs2527575140	1:2,160,229	C/G	—	likely benign
rs2100789413	1:2,160,231	G/A	—	uncertain significance
rs1476360335	1:2,160,232	C/A	—	likely benign
rs1188688992	1:2,160,233	T/G	—	uncertain significance
rs1553189820	1:2,160,234	G/A	—	uncertain significance
rs2527575185	1:2,160,235	T/C	—	likely benign
rs1045231306	1:2,160,238	C/G	—	uncertain significance
rs1159722950	1:2,160,240	A/T	—	uncertain significance
rs1372935125	1:2,160,241	G/C	—	uncertain significance
rs1460907031	1:2,160,242	C/G	—	uncertain significance
rs1170200657	1:2,160,243	C/T	—	uncertain significance
rs1232615367	1:2,160,246	A/C	—	uncertain significance
rs543603037	1:2,160,247	C/T	—	likely benign
rs2527575277	1:2,160,249	C/T	—	uncertain significance
rs762947696	1:2,160,250	G/A	—	likely benign
rs2527575289	1:2,160,251	G/A	—	uncertain significance
rs1396896164	1:2,160,253	G/A	—	likely benign
rs763997001	1:2,160,256	G/A	—	likely benign
rs750495079	1:2,160,262	G/A	—	likely benign
rs1060502671	1:2,160,264	C/T	—	pathogenic
rs869312902	1:2,160,267	T/G	missense variant	pathogenic
rs766670389	1:2,160,269	G/A	—	uncertain significance
rs1557806222	1:2,160,273	A/C	—	likely pathogenic
rs2100789495	1:2,160,276	T/C	—	uncertain significance
rs953342598	1:2,160,277	C/T	—	likely benign
rs1486448334	1:2,160,280	C/T	—	likely benign
rs754124231	1:2,160,281	C/T	—	likely benign
rs2527575451	1:2,160,283	G/C	—	likely benign
rs755325222	1:2,160,286	C/T	—	likely benign
rs2527575471	1:2,160,287	T/A	—	pathogenic
rs1569656949	1:2,160,288	C/T	—	uncertain significance
rs1427151111	1:2,160,289	C/T	—	likely benign
rs779415339	1:2,160,291	T/G	—	uncertain significance
rs1638562525	1:2,160,294	G/A	—	uncertain significance
rs1569656981	1:2,160,296	T/C	—	pathogenic
rs387907304	1:2,160,299	C/G	missense variant	pathogenic
rs2527575539	1:2,160,301	G/A	—	likely benign
rs200019352	1:2,160,304	C/T	—	likely benign
rs387907306	1:2,160,305	G/T	missense variant	pathogenic
rs387907305	1:2,160,306	G/T	missense variant	pathogenic
rs397514590	1:2,160,308	C/T	missense variant	pathogenic
rs397514589	1:2,160,309	C/A	missense variant	pathogenic
rs778180778	1:2,160,310	G/A	—	likely benign
rs2100789569	1:2,160,311	G/C	—	likely pathogenic
rs944776416	1:2,160,313	C/G	—	likely benign
rs2100789581	1:2,160,316	T/C	—	likely benign
rs746485528	1:2,160,321	C/T	—	uncertain significance
rs1295276321	1:2,160,322	G/C	—	likely benign
rs1380338130	1:2,160,324	C/T	—	uncertain significance
rs1233566903	1:2,160,328	C/G	—	likely benign
rs1313492083	1:2,160,334	G/A	—	likely benign
rs1233481050	1:2,160,336	A/T	—	uncertain significance
rs2527575813	1:2,160,339	A/C	—	uncertain significance
rs1300049118	1:2,160,341	G/T	—	uncertain significance
rs1210974703	1:2,160,342	C/G	—	uncertain significance
rs745527890	1:2,160,343	C/T	—	likely benign
rs1303337266	1:2,160,344	T/C	—	uncertain significance
rs946543006	1:2,160,347	A/C	—	uncertain significance
rs1396930450	1:2,160,349	G/A	—	likely benign
rs1043627749	1:2,160,352	G/A	—	likely benign
rs1158589836	1:2,160,354	A/T	—	uncertain significance
rs2527575920	1:2,160,357	G/A	—	uncertain significance
rs2527575930	1:2,160,359	G/T	—	uncertain significance
rs1362296627	1:2,160,360	C/T	—	uncertain significance
rs2527575965	1:2,160,362	A/C	—	uncertain significance
rs1569657324	1:2,160,364	G/A	—	likely benign
rs2527575988	1:2,160,365	G/A	—	uncertain significance
rs769506718	1:2,160,368	G/C	—	conflicting classifications of pathogenicity
rs2527576012	1:2,160,369	C/T	—	uncertain significance
rs2527576018	1:2,160,370	G/A	—	likely benign
rs1389185868	1:2,160,375	C/T	—	conflicting classifications of pathogenicity
rs1638564960	1:2,160,378	C/G	—	uncertain significance
rs764061670	1:2,160,382	G/T	—	likely benign
rs2527576091	1:2,160,383	G/C	—	uncertain significance
rs1557806444	1:2,160,387	C/T	—	uncertain significance
rs774187595	1:2,160,388	G/C	—	likely benign
rs1440479467	1:2,160,389	G/T	—	uncertain significance
rs28384811	1:2,160,390	C/G	—	likely benign
rs766569890	1:2,160,393	C/T	—	conflicting classifications of pathogenicity
rs1334963271	1:2,160,394	G/A	—	likely benign
rs754036418	1:2,160,395	G/A	—	conflicting classifications of pathogenicity
rs1330346480	1:2,160,396	T/G	—	uncertain significance
rs897964442	1:2,160,397	G/T	—	likely benign
rs1300771712	1:2,160,400	C/T	—	likely benign

Showing 100 of 893 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.