WDR72

WD repeat domain 72

Summary

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Known Variants294 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7168365	15:53,805,825	C/A	downstream gene variant	—
rs6493630	15:53,805,960	C/T	—	likely benign
rs886051277	15:53,806,044	A/C	—	uncertain significance
rs551905947	15:53,806,086	A/T	—	uncertain significance
rs79708164	15:53,806,154	C/G	—	likely benign
rs371978233	15:53,806,162	T/C	—	likely benign
rs75272713	15:53,806,205	C/A	—	uncertain significance
rs74871423	15:53,806,207	T/C	—	likely benign
rs886051278	15:53,806,246	T/C	—	uncertain significance
rs1595717383	15:53,806,269	G/A	—	uncertain significance
rs886051279	15:53,806,302	T/G	—	uncertain significance
rs111488180	15:53,806,304	T/C	—	likely benign
rs193055203	15:53,806,321	A/G	—	likely benign
rs185236656	15:53,806,382	C/A	—	uncertain significance
rs143131142	15:53,806,385	T/C	—	uncertain significance
rs886051280	15:53,806,426	G/A	—	uncertain significance
rs935827680	15:53,806,437	G/A	—	uncertain significance
rs13329257	15:53,806,463	C/T	—	likely benign
rs74015386	15:53,806,473	T/G	—	benign
rs1015802614	15:53,806,562	T/C	—	uncertain significance
rs74015387	15:53,806,571	C/T	—	likely benign
rs137867992	15:53,806,671	A/C	—	benign
rs143400580	15:53,806,732	A/G	—	likely benign
rs575286357	15:53,806,768	C/T	—	uncertain significance
rs372563214	15:53,806,770	A/G	—	uncertain significance
rs72745122	15:53,806,782	C/T	—	likely benign
rs1365667800	15:53,806,880	C/T	—	uncertain significance
rs879270279	15:53,806,941	T/C	—	uncertain significance
rs74015388	15:53,806,949	T/A	—	likely benign
rs886051281	15:53,806,977	A/C	—	uncertain significance
rs189694115	15:53,807,047	C/A	—	uncertain significance
rs7175105	15:53,807,088	C/A	—	benign
rs531740269	15:53,807,111	C/T	—	uncertain significance
rs1891351217	15:53,807,130	C/G	—	uncertain significance
rs181220553	15:53,807,221	T/C	—	likely benign
rs7175439	15:53,807,223	C/T	—	uncertain significance
rs184165819	15:53,807,225	C/G	—	uncertain significance
rs201198446	15:53,807,229	T/C	—	uncertain significance
rs933412158	15:53,807,246	A/G	—	uncertain significance
rs1051072411	15:53,807,248	G/A	—	uncertain significance
rs796396291	15:53,807,252	G/A	—	uncertain significance
rs1001148159	15:53,807,254	A/G	—	uncertain significance
rs886051285	15:53,807,263	C/T	—	uncertain significance
rs886051286	15:53,807,274	A/G	—	uncertain significance
rs971592308	15:53,807,276	G/A	—	uncertain significance
rs116990736	15:53,807,280	G/A	—	uncertain significance
rs28620845	15:53,807,303	C/A	—	uncertain significance
rs1333938684	15:53,807,309	C/G	—	uncertain significance
rs188128535	15:53,807,375	T/C	—	uncertain significance
rs776855982	15:53,807,392	A/C	—	uncertain significance
rs4633660	15:53,807,399	T/C	—	benign
rs1891398511	15:53,807,426	T/C	—	uncertain significance
rs536634979	15:53,807,506	G/T	—	uncertain significance
rs767102554	15:53,807,518	A/T	—	uncertain significance
rs886051290	15:53,807,536	G/A	—	uncertain significance
rs3088091	15:53,807,540	G/A	—	likely benign
rs542885153	15:53,807,681	C/T	—	uncertain significance
rs556155906	15:53,807,687	G/A	—	uncertain significance
rs1335888154	15:53,807,759	A/C	—	uncertain significance
rs74015391	15:53,807,815	G/A	—	benign
rs561453499	15:53,807,846	G/T	—	uncertain significance
rs1891422335	15:53,807,893	C/G	—	uncertain significance
rs886051291	15:53,807,956	T/A	—	uncertain significance
rs148744855	15:53,807,960	T/C	—	uncertain significance
rs7180991	15:53,807,964	A/C	—	benign
rs7181293	15:53,807,998	T/C	—	benign
rs928204245	15:53,808,000	A/T	—	uncertain significance
rs143667387	15:53,808,030	T/C	—	uncertain significance
rs1891432762	15:53,808,037	T/C	—	uncertain significance
rs572582132	15:53,808,043	T/C	—	uncertain significance
rs576208075	15:53,808,132	A/C	—	uncertain significance
rs8041208	15:53,808,157	T/C	—	benign
rs72745124	15:53,808,162	A/G	—	likely benign
rs10518724	15:53,808,232	C/A	—	likely benign
rs928121087	15:53,808,276	G/A	—	uncertain significance
rs886051292	15:53,808,313	A/G	—	uncertain significance
rs886051293	15:53,808,319	C/G	—	uncertain significance
rs1891449343	15:53,808,343	C/G	—	uncertain significance
rs7182198	15:53,808,363	G/A	—	likely benign
rs1891450952	15:53,808,368	G/C	—	uncertain significance
rs543611189	15:53,808,369	T/C	—	uncertain significance
rs776180210	15:53,808,387	C/G	—	uncertain significance
rs76317515	15:53,808,418	T/A	—	likely benign
rs886051294	15:53,808,426	A/G	—	uncertain significance
rs372471720	15:53,808,546	T/A	—	uncertain significance
rs758752529	15:53,808,571	A/G	—	uncertain significance
rs3206108	15:53,808,617	C/G	—	likely benign
rs115655160	15:53,808,678	A/T	—	uncertain significance
rs886051295	15:53,808,713	C/T	—	uncertain significance
rs572496420	15:53,808,721	C/A	—	uncertain significance
rs1038976295	15:53,808,724	T/C	—	uncertain significance
rs74015392	15:53,808,751	A/C	—	likely benign
rs547196239	15:53,808,797	C/G	—	uncertain significance
rs8026294	15:53,808,842	G/A	—	benign
rs577502386	15:53,808,882	A/G	—	uncertain significance
rs758330355	15:53,808,890	T/C	—	uncertain significance
rs78118351	15:53,808,903	A/T	—	likely benign
rs1469621117	15:53,808,940	C/T	—	uncertain significance
rs188922992	15:53,808,983	C/G	—	uncertain significance
rs886051296	15:53,808,998	T/C	—	uncertain significance

Showing 100 of 294 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.