DISC1

DISC1 scaffold protein

Summary

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants123 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3738398	1:231,762,340	G/C	regulatory region variant	—
rs79978593	1:231,762,651	C/G	—	likely benign
rs566458514	1:231,762,655	C/T	—	likely benign
rs535608432	1:231,762,684	G/A	—	likely benign
rs532643637	1:231,768,171	C/T	—	—
rs751229	1:231,768,539	A/T	—	risk factor
rs140691414	1:231,794,081	C/T	intron variant	—
rs10864693	1:231,804,093	G/T	upstream gene variant	—
rs11122319	1:231,808,282	A/T	—	—
rs12042938	1:231,816,842	C/T	intron variant	—
rs1417584	1:231,819,050	T/A	—	—
rs1572899	1:231,825,490	G/A	—	—
rs202102981	1:231,829,613	C/T	—	uncertain significance
rs746258574	1:231,829,665	T/G	—	uncertain significance
rs367627719	1:231,829,667	G/A	—	uncertain significance
rs147261047	1:231,829,700	C/T	—	conflicting classifications of pathogenicity
rs149444280	1:231,829,715	G/T	—	benign
rs777650012	1:231,829,724	G/A	—	uncertain significance
rs2545153506	1:231,829,833	C/T	—	uncertain significance
rs778827055	1:231,829,846	C/A	—	likely benign
rs56020408	1:231,829,851	C/T	—	benign
rs748575787	1:231,829,883	A/G	—	uncertain significance
rs773758385	1:231,829,908	C/T	—	likely benign
rs201600649	1:231,829,961	T/C	—	uncertain significance
rs143796295	1:231,829,983	G/T	—	likely benign
rs186593988	1:231,830,012	C/T	—	benign
rs768544712	1:231,830,015	G/A	—	uncertain significance
rs139667828	1:231,830,059	C/T	—	benign
rs1225043146	1:231,830,064	G/A	—	uncertain significance
rs756502841	1:231,830,144	C/T	—	uncertain significance
rs199617790	1:231,830,145	G/A	—	likely benign
rs767632505	1:231,830,194	A/G	—	likely benign
rs997930434	1:231,830,195	C/T	—	uncertain significance
rs780719614	1:231,830,264	G/A	—	likely benign
rs755865070	1:231,830,271	A/G	—	uncertain significance
rs367543085	1:231,830,272	C/T	—	likely benign
rs3738401	1:231,830,295	G/A	missense variant	risk factor
rs2065413188	1:231,830,321	G/C	—	uncertain significance
rs770190113	1:231,830,391	A/G	—	uncertain significance
rs763667017	1:231,830,454	G/A	—	uncertain significance
rs753596220	1:231,830,458	C/T	—	likely benign
rs34622148	1:231,830,492	C/T	—	benign
rs557511436	1:231,830,494	C/T	—	likely benign
rs1416947321	1:231,830,510	G/C	—	uncertain significance
rs561520652	1:231,830,516	C/T	—	uncertain significance
rs1161255261	1:231,830,519	G/A	—	uncertain significance
rs2545165809	1:231,830,521	C/G	—	uncertain significance
rs776313827	1:231,830,537	C/T	—	uncertain significance
rs77080351	1:231,830,538	G/A	missense variant	benign
rs750030920	1:231,830,540	A/G	—	uncertain significance
rs12044355	1:231,844,347	A/C	intron variant	—
rs189133240	1:231,856,598	G/A	—	likely benign
rs11122324	1:231,859,181	G/A	regulatory region variant	—
rs2812385	1:231,864,002	G/T	intron variant	—
rs2793092	1:231,880,340	G/A	intron variant	—
rs2545897338	1:231,885,677	A/T	—	uncertain significance
rs372352273	1:231,885,773	C/T	—	uncertain significance
rs193024019	1:231,885,803	C/A	—	uncertain significance
rs777900755	1:231,885,806	C/T	—	uncertain significance
rs2793091	1:231,894,608	A/G	intron variant	—
rs1538979	1:231,896,868	C/T	intron variant	—
rs11122330	1:231,898,591	A/G	intron variant	—
rs2793086	1:231,899,704	T/G	intron variant	—
rs78792190	1:231,902,912	C/T	—	likely benign
rs142645368	1:231,902,927	C/T	—	uncertain significance
rs116628628	1:231,902,964	C/T	—	benign
rs34268403	1:231,902,973	C/T	—	benign
rs28930675	1:231,902,975	C/T	—	benign
rs2546066166	1:231,902,978	G/T	—	uncertain significance
rs3738402	1:231,903,010	C/T	synonymous variant	benign
rs1216921266	1:231,906,635	C/T	—	uncertain significance
rs2546092570	1:231,906,675	A/C	—	uncertain significance
rs150294573	1:231,906,698	C/T	—	uncertain significance
rs56229136	1:231,906,773	G/C	—	benign
rs143165003	1:231,906,801	C/G	—	uncertain significance
rs147189435	1:231,906,823	C/G	—	likely benign
rs774137161	1:231,906,829	T/G	—	likely benign
rs567019998	1:231,910,414	G/A	intron variant	—
rs2812393	1:231,913,673	G/A	—	—
rs1322784	1:231,928,935	G/A	regulatory region variant	—
rs1362439212	1:231,931,021	A/G	—	likely benign
rs575022416	1:231,935,858	G/A	—	uncertain significance
rs367543092	1:231,935,882	C/A	—	uncertain significance
rs202013247	1:231,935,888	G/A	—	uncertain significance
rs367543093	1:231,935,893	A/G	—	uncertain significance
rs192018321	1:231,935,920	C/G	—	likely benign
rs967244	1:231,948,646	G/A	intron variant	—
rs2081241465	1:231,954,098	G/C	—	uncertain significance
rs774002534	1:231,954,159	G/A	—	likely benign
rs1350953507	1:231,954,228	T/C	—	uncertain significance
rs2081252745	1:231,954,258	C/T	—	uncertain significance
rs781439697	1:231,954,259	C/T	—	likely benign
rs1000731	1:231,963,491	C/T	regulatory region variant	—
rs3081	1:232,002,332	C/G	—	benign
rs990886909	1:232,010,049	G/T	—	—
rs4658890	1:232,024,081	G/C	—	—
rs1407599	1:232,027,911	G/T	intron variant	—
rs821577	1:232,067,057	T/A	—	—
rs821589	1:232,090,932	C/T	intron variant	—
rs80264087	1:232,094,565	T/C	—	likely benign

Showing 100 of 123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.