PAX9

paired box 9

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]

Known Variants146 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147254306	14:37,126,780	C/T	—	uncertain significance
rs374248332	14:37,126,843	C/G	—	likely benign
rs147293671	14:37,126,855	G/A	—	uncertain significance
rs750417470	14:37,126,946	C/A	—	uncertain significance
rs756143266	14:37,127,011	C/T	—	uncertain significance
rs4904155	14:37,127,044	C/G	regulatory region variant	benign
rs886050486	14:37,127,120	G/C	—	uncertain significance
rs34914085	14:37,128,564	C/A	—	benign
rs2073244	14:37,129,874	A/G	—	benign
rs2073245	14:37,129,930	C/G	—	benign
rs2073246	14:37,129,993	C/T	—	benign
rs17104888	14:37,130,164	T/C	—	benign
rs2073247	14:37,130,745	C/T	regulatory region variant	benign
rs886050487	14:37,130,957	C/T	—	uncertain significance
rs780901065	14:37,130,974	C/A	—	uncertain significance
rs886050488	14:37,131,051	G/T	—	uncertain significance
rs533579629	14:37,131,077	G/A	—	uncertain significance
rs886050489	14:37,131,109	C/A	—	uncertain significance
rs144429269	14:37,131,120	G/C	—	likely benign
rs886050490	14:37,131,176	A/T	—	uncertain significance
rs1881288923	14:37,131,228	A/G	—	uncertain significance
rs886050491	14:37,131,230	G/A	—	uncertain significance
rs2139106532	14:37,131,295	A/G	—	pathogenic
rs1594465933	14:37,131,296	T/A	—	pathogenic
rs1131692057	14:37,131,297	G/A	—	pathogenic
rs372515996	14:37,131,308	G/A	—	likely benign
rs12883298	14:37,131,993	G/C	—	benign
rs17104895	14:37,132,020	G/A	—	benign
rs12882923	14:37,132,048	A/G	—	benign
rs12883049	14:37,132,061	G/A	—	benign
rs770389639	14:37,132,103	G/A	—	uncertain significance
rs1881336660	14:37,132,119	G/A	—	uncertain significance
rs1468664204	14:37,132,122	A/G	—	uncertain significance
rs1373680338	14:37,132,125	C/A	—	uncertain significance
rs146561842	14:37,132,127	G/A	—	benign
rs745522921	14:37,132,148	C/G	—	likely pathogenic
rs1555316697	14:37,132,156	C/T	—	pathogenic
rs28933970	14:37,132,159	T/C	missense variant	pathogenic
rs28933972	14:37,132,173	C/T	missense variant	pathogenic
rs2502236756	14:37,132,174	G/A	—	uncertain significance
rs28933971	14:37,132,180	G/C	missense variant	pathogenic
rs763028737	14:37,132,209	C/T	—	pathogenic
rs2502236894	14:37,132,227	C/T	—	uncertain significance
rs121917720	14:37,132,236	C/T	missense variant	pathogenic
rs1881341880	14:37,132,237	G/C	—	pathogenic
rs2139107979	14:37,132,243	C/T	—	pathogenic
rs753143072	14:37,132,247	C/T	—	uncertain significance
rs104894469	14:37,132,248	G/A	missense variant	pathogenic
rs2139107997	14:37,132,249	G/T	—	pathogenic
rs200418409	14:37,132,253	C/T	—	likely benign
rs1555316704	14:37,132,277	C/A	—	pathogenic
rs778437280	14:37,132,281	G/A	—	uncertain significance
rs749743496	14:37,132,285	C/G	—	uncertain significance
rs2139108057	14:37,132,288	G/T	—	pathogenic
rs200688741	14:37,132,289	C/T	—	conflicting classifications of pathogenicity
rs1555316711	14:37,132,314	G/T	—	uncertain significance
rs1264059790	14:37,132,315	G/T	—	uncertain significance
rs1881346298	14:37,132,327	G/A	—	likely pathogenic
rs2502237384	14:37,132,329	G/C	—	uncertain significance
rs1298237496	14:37,132,344	G/T	—	uncertain significance
rs2502237487	14:37,132,345	T/G	—	uncertain significance
rs104894468	14:37,132,356	A/T	missense variant	pathogenic
rs28933373	14:37,132,368	A/G	missense variant	pathogenic
rs886050492	14:37,132,386	A/C	—	uncertain significance
rs1881349234	14:37,132,387	T/A	—	uncertain significance
rs759490130	14:37,132,392	G/T	—	uncertain significance
rs748361932	14:37,132,420	C/T	—	uncertain significance
rs587776350	14:37,132,433	C/G	—	pathogenic
rs104894467	14:37,132,437	A/T	stop gained	pathogenic
rs779248666	14:37,132,440	T/C	—	uncertain significance
rs1398460057	14:37,132,443	A/T	—	uncertain significance
rs2139108314	14:37,132,447	T/G	—	uncertain significance
rs2502238046	14:37,132,453	C/T	—	likely pathogenic
rs2502238080	14:37,132,462	C/A	—	likely pathogenic
rs772970706	14:37,132,490	C/T	—	likely benign
rs764595344	14:37,132,506	C/T	—	pathogenic
rs1881355965	14:37,132,517	C/A	—	pathogenic
rs139008563	14:37,132,525	A/G	—	likely benign
rs1881356852	14:37,132,530	C/T	—	pathogenic
rs750832505	14:37,132,534	A/G	—	uncertain significance
rs757996388	14:37,132,535	C/T	—	likely benign
rs1261824175	14:37,132,548	C/T	—	pathogenic
rs773508045	14:37,132,555	C/A	—	uncertain significance
rs929506828	14:37,132,577	C/T	—	likely benign
rs2139108563	14:37,132,579	C/A	—	pathogenic
rs776661073	14:37,132,601	G/A	—	likely benign
rs143020311	14:37,132,608	G/A	—	conflicting classifications of pathogenicity
rs61734510	14:37,132,613	G/A	—	likely benign
rs370909756	14:37,132,621	C/T	—	uncertain significance
rs1298394734	14:37,132,662	C/T	—	uncertain significance
rs368669343	14:37,132,666	G/A	—	uncertain significance
rs755698555	14:37,132,697	C/T	—	uncertain significance
rs753599757	14:37,132,703	G/A	—	likely benign
rs61754301	14:37,132,706	C/T	synonymous variant	uncertain significance
rs116676854	14:37,132,720	C/G	—	likely benign
rs2236007	14:37,132,769	G/A	regulatory region variant	benign
rs79888726	14:37,132,903	A/T	—	benign
rs7143727	14:37,135,605	G/C	—	benign
rs375436662	14:37,135,675	A/G	—	likely benign
rs199777734	14:37,135,714	A/C	—	conflicting classifications of pathogenicity

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.