EDARADD

EDAR associated via death domain

Summary

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Known Variants138 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10802533	1:236,557,412	T/G	—	benign
rs79233817	1:236,557,742	G/A	—	likely benign
rs780639273	1:236,557,759	G/A	—	likely benign
rs144687140	1:236,557,766	C/G	—	uncertain significance
rs966365	1:236,557,771	G/A	missense variant	benign
rs60808129	1:236,557,804	G/A	—	likely benign
rs111813316	1:236,557,923	G/T	—	benign
rs966364	1:236,557,928	G/A	—	benign
rs142921113	1:236,558,896	C/T	—	likely benign
rs115678841	1:236,559,049	G/A	—	benign
rs139833680	1:236,572,253	T/G	—	benign
rs659901	1:236,572,389	G/A	—	benign
rs669710	1:236,572,475	A/G	—	benign
rs377143490	1:236,572,498	T/C	—	likely benign
rs2527052497	1:236,572,534	C/T	—	uncertain significance
rs1657345576	1:236,572,539	G/A	—	pathogenic
rs374625285	1:236,572,555	G/A	—	uncertain significance
rs2527052598	1:236,572,558	C/A	—	uncertain significance
rs759461234	1:236,572,569	A/G	—	conflicting classifications of pathogenicity
rs879255553	1:236,572,575	G/A	—	pathogenic
rs149429886	1:236,572,581	G/A	—	benign
rs760506554	1:236,572,584	A/G	—	likely benign
rs671040	1:236,572,844	T/G	—	benign
rs16833652	1:236,577,350	T/C	—	benign
rs12064562	1:236,577,541	C/T	—	benign
rs1476912628	1:236,577,554	C/G	—	uncertain significance
rs146108503	1:236,577,586	G/A	—	likely benign
rs1486308538	1:236,577,587	G/A	—	uncertain significance
rs1259703946	1:236,577,593	C/T	—	uncertain significance
rs625444	1:236,577,761	T/C	—	benign
rs625443	1:236,577,762	C/T	—	benign
rs665150	1:236,577,800	G/A	—	benign
rs75999832	1:236,577,846	G/A	—	benign
rs1759388	1:236,590,497	C/G	—	benign
rs1778861	1:236,590,563	C/T	—	benign
rs636378	1:236,590,629	C/T	—	benign
rs636048	1:236,590,659	G/C	—	benign
rs184596437	1:236,590,679	T/C	—	conflicting classifications of pathogenicity
rs1553267282	1:236,590,690	A/G	—	uncertain significance
rs766500689	1:236,590,727	C/T	stop gained	pathogenic
rs751704449	1:236,590,730	A/T	—	uncertain significance
rs635487	1:236,590,816	T/G	—	benign
rs634626	1:236,591,003	T/A	—	benign
rs886046185	1:236,631,516	C/T	—	uncertain significance
rs1044285599	1:236,631,531	G/A	—	uncertain significance
rs766731640	1:236,631,557	C/T	—	likely benign
rs376772514	1:236,631,565	A/T	—	uncertain significance
rs657441	1:236,638,750	G/T	intron variant	—
rs34203493	1:236,645,346	C/T	—	benign
rs603158	1:236,645,440	C/T	—	benign
rs886046186	1:236,645,603	C/T	—	uncertain significance
rs114632254	1:236,645,609	C/T	—	likely benign
rs752275345	1:236,645,624	G/A	—	uncertain significance
rs2103042605	1:236,645,660	A/C	—	likely pathogenic
rs1571963292	1:236,645,661	C/T	—	likely benign
rs121908116	1:236,645,666	T/G	missense variant	pathogenic
rs879255629	1:236,645,668	G/A	missense variant	pathogenic
rs604070	1:236,645,670	C/T	—	likely benign
rs147501905	1:236,645,671	G/C	—	uncertain significance
rs1553271837	1:236,645,690	A/G	—	likely pathogenic
rs1005957166	1:236,645,693	C/T	—	conflicting classifications of pathogenicity
rs139996586	1:236,645,694	G/A	—	benign
rs2526927093	1:236,645,695	T/G	—	uncertain significance
rs397515575	1:236,645,703	—	—	—
rs769122607	1:236,645,705	C/T	—	uncertain significance
rs1030214435	1:236,645,714	A/T	—	likely pathogenic
rs954823206	1:236,645,718	G/A	—	pathogenic
rs2526927227	1:236,645,740	G/A	—	uncertain significance
rs1659704734	1:236,645,741	G/T	—	uncertain significance
rs2103042663	1:236,645,747	C/T	—	uncertain significance
rs1360853625	1:236,645,749	T/A	—	uncertain significance
rs74315309	1:236,645,755	G/A	missense variant	pathogenic
rs2526927321	1:236,645,770	G/A	—	pathogenic
rs2526927359	1:236,645,785	A/G	—	uncertain significance
rs1571963461	1:236,645,789	C/A	—	uncertain significance
rs757261515	1:236,645,810	G/A	—	uncertain significance
rs1307926920	1:236,645,825	C/T	—	uncertain significance
rs2526927576	1:236,645,844	G/T	—	uncertain significance
rs748587639	1:236,645,869	G/A	—	uncertain significance
rs200017138	1:236,645,871	C/A	—	pathogenic
rs375789023	1:236,645,872	G/T	—	uncertain significance
rs483352767	1:236,645,888	G/A	—	uncertain significance
rs74942492	1:236,645,901	C/T	—	conflicting classifications of pathogenicity
rs376731607	1:236,645,924	G/A	—	uncertain significance
rs1462821448	1:236,645,941	C/T	—	uncertain significance
rs568663942	1:236,645,961	T/C	—	uncertain significance
rs886046187	1:236,646,049	C/T	—	uncertain significance
rs886046188	1:236,646,064	A/G	—	uncertain significance
rs775159272	1:236,646,144	G/T	—	uncertain significance
rs760609411	1:236,646,221	G/A	—	uncertain significance
rs142266831	1:236,646,234	G/A	—	conflicting classifications of pathogenicity
rs886046190	1:236,646,303	G/C	—	uncertain significance
rs189781826	1:236,646,366	G/A	—	conflicting classifications of pathogenicity
rs1309549108	1:236,646,507	C/T	—	uncertain significance
rs886046191	1:236,646,535	T/C	—	uncertain significance
rs183153044	1:236,646,577	G/A	—	uncertain significance
rs61740488	1:236,646,627	A/C	—	likely benign
rs61740486	1:236,646,631	G/A	—	likely benign
rs188977509	1:236,646,668	C/T	—	uncertain significance
rs745456566	1:236,646,695	G/T	—	uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.