SIX3

SIX homeobox 3

Summary

This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]

Known Variants158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs741813	2:45,167,886	T/G	coding sequence variant	—
rs113140425	2:45,168,921	C/T	—	likely benign
rs761312566	2:45,169,242	C/G	—	uncertain significance
rs1553337590	2:45,169,244	A/G	—	likely pathogenic
rs2466512637	2:45,169,249	A/C	—	likely benign
rs1490771348	2:45,169,262	C/A	—	uncertain significance
rs779124694	2:45,169,282	C/T	—	likely benign
rs748430037	2:45,169,284	T/G	—	uncertain significance
rs772181424	2:45,169,285	C/T	—	likely benign
rs1572623640	2:45,169,286	T/C	—	likely benign
rs1354320200	2:45,169,291	G/A	—	likely benign
rs551637040	2:45,169,295	A/T	—	uncertain significance
rs1666588321	2:45,169,300	C/T	—	likely benign
rs200575650	2:45,169,301	G/T	—	benign
rs370774455	2:45,169,303	C/A	—	likely benign
rs537643024	2:45,169,304	G/A	—	uncertain significance
rs773982749	2:45,169,322	A/G	—	uncertain significance
rs181010373	2:45,169,329	T/C	—	conflicting classifications of pathogenicity
rs78018362	2:45,169,333	G/T	—	benign
rs2103641025	2:45,169,335	G/C	—	uncertain significance
rs202214767	2:45,169,339	C/T	—	likely benign
rs1173129221	2:45,169,342	C/T	—	likely benign
rs779034696	2:45,169,348	G/T	—	conflicting classifications of pathogenicity
rs1572623734	2:45,169,351	C/T	—	likely benign
rs199823175	2:45,169,352	G/T	missense variant	pathogenic
rs2103641107	2:45,169,355	G/A	—	uncertain significance
rs2103641137	2:45,169,363	C/A	—	likely benign
rs1436891421	2:45,169,370	G/T	—	uncertain significance
rs2103641181	2:45,169,383	G/T	—	uncertain significance
rs771134581	2:45,169,385	A/G	—	likely benign
rs2466513332	2:45,169,397	A/T	—	uncertain significance
rs761202592	2:45,169,400	G/T	—	uncertain significance
rs926903553	2:45,169,405	G/A	—	likely benign
rs772677168	2:45,169,407	G/A	—	uncertain significance
rs760535753	2:45,169,411	C/T	—	conflicting classifications of pathogenicity
rs1344650194	2:45,169,412	G/T	—	uncertain significance
rs766222601	2:45,169,414	C/T	—	likely benign
rs753628024	2:45,169,415	G/T	—	uncertain significance
rs759511221	2:45,169,423	C/T	—	uncertain significance
rs575387114	2:45,169,424	G/A	—	uncertain significance
rs778060809	2:45,169,439	G/A	—	uncertain significance
rs2466513507	2:45,169,448	G/T	—	uncertain significance
rs121917881	2:45,169,449	G/A	missense variant	pathogenic
rs1314811261	2:45,169,451	T/C	—	uncertain significance
rs2466513527	2:45,169,452	C/G	—	uncertain significance
rs757487016	2:45,169,457	G/T	—	uncertain significance
rs781731500	2:45,169,458	C/T	—	uncertain significance
rs746201264	2:45,169,459	C/T	—	likely benign
rs186163123	2:45,169,462	C/T	—	likely benign
rs771429347	2:45,169,464	C/G	—	uncertain significance
rs770543339	2:45,169,470	A/T	—	uncertain significance
rs2466513675	2:45,169,480	G/C	—	uncertain significance
rs765191003	2:45,169,487	C/T	—	likely benign
rs752510117	2:45,169,489	G/T	—	likely benign
rs2103641613	2:45,169,507	G/A	—	likely benign
rs2466513754	2:45,169,514	C/T	—	pathogenic
rs2466513762	2:45,169,518	T/G	—	pathogenic
rs751652441	2:45,169,521	C/T	—	uncertain significance
rs1553337648	2:45,169,531	T/A	—	pathogenic
rs971789082	2:45,169,537	G/T	—	likely benign
rs1391196667	2:45,169,543	G/A	—	likely benign
rs201451750	2:45,169,549	G/A	—	likely benign
rs1326804162	2:45,169,550	G/C	—	uncertain significance
rs1446941052	2:45,169,567	G/A	—	likely benign
rs1572624000	2:45,169,581	G/C	—	uncertain significance
rs137853021	2:45,169,582	G/T	missense variant	pathogenic
rs780724528	2:45,169,585	G/T	—	likely benign
rs573768953	2:45,169,591	C/T	—	likely benign
rs199742584	2:45,169,594	G/A	—	likely benign
rs376519917	2:45,169,606	G/T	—	likely benign
rs200331042	2:45,169,612	G/A	—	conflicting classifications of pathogenicity
rs886042975	2:45,169,618	C/A	—	uncertain significance
rs2466514021	2:45,169,625	C/T	—	uncertain significance
rs387906867	2:45,169,628	G/A	missense variant	uncertain significance
rs1164238885	2:45,169,630	G/A	—	likely benign
rs2466514039	2:45,169,631	T/C	—	uncertain significance
rs2466514044	2:45,169,632	C/G	—	uncertain significance
rs947616017	2:45,169,639	G/A	—	likely benign
rs764059633	2:45,169,657	C/T	—	likely benign
rs1666602075	2:45,169,662	T/C	—	likely pathogenic
rs1460056891	2:45,169,673	A/G	—	uncertain significance
rs750603655	2:45,169,678	C/T	—	likely benign
rs756395470	2:45,169,679	C/T	—	uncertain significance
rs766724439	2:45,169,680	G/T	—	uncertain significance
rs1373765560	2:45,169,681	C/T	—	likely benign
rs2466514294	2:45,169,708	C/T	—	likely benign
rs2466514310	2:45,169,721	G/A	—	uncertain significance
rs746533848	2:45,169,729	C/A	—	uncertain significance
rs387906868	2:45,169,742	G/T	missense variant	pathogenic
rs1558420022	2:45,169,750	G/A	—	pathogenic
rs2466514381	2:45,169,758	C/G	—	uncertain significance
rs116680477	2:45,169,768	G/A	—	likely benign
rs200844888	2:45,169,795	A/G	—	likely benign
rs761021058	2:45,169,802	C/G	—	uncertain significance
rs754178703	2:45,169,816	C/T	—	likely benign
rs182881	2:45,169,819	C/T	—	benign
rs1666605262	2:45,169,824	G/C	—	likely pathogenic
rs2466514556	2:45,169,825	C/T	—	likely benign
rs1004066300	2:45,169,831	G/A	—	likely benign
rs2466514582	2:45,169,834	C/T	—	likely benign

Showing 100 of 158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.