Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3784
Gene name	Potassium voltage-gated channel subfamily Q member 1
Gene symbol	KCNQ1
Synonyms (NCBI Gene)	ATFB1ATFB3JLNS1KCNA8KCNA9KVLQT1Kv1.9Kv7.1LQTLQT1RWSSQT2WRS
Chromosome	11
Chromosome location	11p15.5-p15.4
Summary	This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated

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SNP ID	Visualize variation	Clinical significance	Consequence
rs179489	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs1800171	G>A,C,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant
rs12720457	G>T	Benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs12720458	A>G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs12720459	C>A,G,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs17215500	C>G,T	Pathogenic, uncertain-significance, not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs17221854	C>T	Risk-factor, pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs74462309	A>C,G,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs76735093	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs76737438	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs104894252	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894255	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs120074177	G>A,C	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074178	G>A,C,T	Likely-pathogenic, uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074179	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074180	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074181	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074182	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074183	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074184	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074185	C>A,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074186	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, stop gained, missense variant
rs120074187	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs120074188	G>A	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074189	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074190	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074191	C>T	Not-provided, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs120074192	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074193	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074194	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074195	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074196	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs138362632	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs138551008	C>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139042529	C>A,G,T	Likely-benign, benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs140452381	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs145229963	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs149089817	G>A	Pathogenic	Missense variant, coding sequence variant
rs151344631	G>A	Pathogenic	Missense variant, coding sequence variant
rs181106858	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193922365	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472677	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472678	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472681	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472685	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472687	G>A	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472696	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472697	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472698	G>A,C	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472700	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472702	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472705	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472706	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472708	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472709	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472710	T>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472712	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472713	C>A,T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs199472716	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472718	A>C,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472719	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472720	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472722	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199472724	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472726	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472728	A>G	Uncertain-significance, likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199472730	C>G,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472734	G>A	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472737	C>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472745	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472751	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472752	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant
rs199472753	C>G,T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472754	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472755	C>A,G,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472756	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472758	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472759	T>A,C	Uncertain-significance, not-provided, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199472760	C>T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472763	C>A,G,T	Uncertain-significance, likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs199472765	C>A,G	Pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199472767	T>A	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472768	T>C,G	Likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199472771	G>A,T	Not-provided, likely-pathogenic, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs199472775	A>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472776	C>G,T	Uncertain-significance, likely-pathogenic, not-provided, benign	Coding sequence variant, missense variant
rs199472789	A>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472790	T>G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472793	C>T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472794	G>A,C	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472795	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472800	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472801	A>G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472804	C>A,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472805	T>C,G	Not-provided, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs199472806	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472807	G>A,C	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472813	G>A,C	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472814	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472815	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472823	T>C	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473394	G>A	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant
rs199473397	A>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473398	G>A,C,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473399	T>C	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs199473403	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473406	A>G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473408	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473410	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473411	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs199473441	A>G,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, initiator codon variant
rs199473442	C>G,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199473443	C>T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs199473450	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473451	A>G	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473455	C>G,T	Likely-pathogenic, not-provided, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs199473456	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473457	C>A,T	Pathogenic, not-provided, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199473459	T>C	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199473460	T>C,G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473471	G>A,C	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473479	T>G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473480	C>A,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199473485	T>A,C	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, initiator codon variant
rs199473661	T>C,G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473662	C>A,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant
rs200612600	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267607197	G>A	Pathogenic	Coding sequence variant, missense variant
rs368507376	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs374090960	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs387906290	G>A,C	Pathogenic	Splice acceptor variant
rs397508067	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508068	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508069	TTT>-	Pathogenic, not-provided	Coding sequence variant, inframe deletion
rs397508070	G>A	Likely-pathogenic	Splice donor variant
rs397508072	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508075	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508077	TTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508082	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs397508083	A>-,AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508087	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs397508096	C>G	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs397508097	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508107	GCCGCGCCC>-,GCCGCGCCCGCCGCGCCC	Uncertain-significance, pathogenic, not-provided	Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion
rs397508109	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs397508110	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508111	G>A,C	Pathogenic, likely-pathogenic	Intron variant
rs397508112	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508114	G>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs397508115	C>GG	Pathogenic	Coding sequence variant, frameshift variant
rs397508116	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508117	GG>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs397508118	GCGCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508120	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508122	G>A	Pathogenic	Intron variant
rs397508125	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508126	TCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508127	CTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508129	GTGAACGAGTCAGGCCGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508130	G>T	Pathogenic	Splice donor variant
rs397508131	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs397508133	A>C,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs397508134	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515637	CAGTAC>GTTGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs397515877	ATCGCGCCC>-,ATCGCGCCCATCGCGCCC,ATCGCGCCCATCGCGCCCATCGCGCCC	Benign-likely-benign, likely-benign, uncertain-significance, pathogenic	Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion
rs530612385	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs752457145	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs762814879	G>A	Pathogenic	Splice donor variant
rs763462603	TCTGGTCCGCC>-,TCTGGTCCGCCTCTGGTCCGCC	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs764781840	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs765169367	G>-	Pathogenic	Coding sequence variant, stop gained
rs775479779	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs779383393	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs786204778	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728510	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728511	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728512	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728513	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728514	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728517	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728519	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728520	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728523	A>C,G	Pathogenic	Splice acceptor variant
rs794728524	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728526	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728527	T>A,C	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs794728528	T>C	Likely-pathogenic	Splice donor variant
rs794728530	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728531	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs794728532	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728533	G>A	Pathogenic	Missense variant, coding sequence variant
rs794728534	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728535	G>T	Pathogenic	Missense variant, coding sequence variant
rs794728536	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728537	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728538	A>G	Pathogenic	Missense variant, coding sequence variant
rs794728544	A>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794728547	->A	Pathogenic	Stop gained, coding sequence variant
rs794728553	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728555	TTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs794728556	GGCTGCGCTTTGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728557	GTGGTAAGTCGG>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs794728559	->AGC	Uncertain-significance, likely-pathogenic	Inframe insertion, coding sequence variant
rs794728562	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice acceptor variant
rs794728563	GCCCGGCGCCCCAGGTCCCGCGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794728565	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728566	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728567	G>A	Pathogenic	Stop gained, coding sequence variant
rs794728568	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728569	A>G	Pathogenic	Missense variant, coding sequence variant
rs794728571	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728572	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs794728573	A>G	Pathogenic	Splice acceptor variant
rs794728576	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728578	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728579	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728580	CGGTGAGTCAT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs796052166	T>G	Likely-pathogenic	Splice donor variant
rs876661350	G>A	Pathogenic	Stop gained, coding sequence variant
rs878854347	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854348	G>C	Pathogenic	Splice acceptor variant
rs878854350	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886037906	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs914460959	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs959449103	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057519584	T>A	Pathogenic	Missense variant, coding sequence variant
rs1057520623	C>A	Pathogenic	Stop gained, coding sequence variant
rs1060500621	GA>TT	Pathogenic	Missense variant, coding sequence variant
rs1060500623	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1060500626	AGGCTCCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500628	G>T	Pathogenic	Stop gained, coding sequence variant
rs1060500629	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794538	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795333	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796353	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1085307965	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691513	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1135401944	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1222477763	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs1325525794	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1435990592	CGGCCGCGCCC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1554892895	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554892900	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554892994	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554893091	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554893092	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554893228	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554893260	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554894445	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554894448	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554894481	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554895166	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554919471	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554920580	->ATGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554920808	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554920833	G>-	Pathogenic	Intron variant
rs1554958030	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554958043	A>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958045	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958047	G>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958049	->GGCGGCG	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554958092	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554958132	->GC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1564820372	G>C	Likely-pathogenic	Splice acceptor variant
rs1564820729	A>C	Likely-pathogenic	Splice acceptor variant
rs1564820786	ACCTGGAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564821090	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1564825414	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1564886323	AG>-	Likely-pathogenic	Splice acceptor variant
rs1564886349	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565023136	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1589884185	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1589931156	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589956565	C>-	Pathogenic	Coding sequence variant, stop gained
rs1589957233	G>A	Likely-pathogenic	Splice donor variant
rs1589957697	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1589957719	C>-	Pathogenic	Coding sequence variant, stop gained
rs1589968661	G>A	Pathogenic	Splice donor variant
rs1590081328	G>A	Likely-pathogenic	Splice acceptor variant
rs1590081467	T>C,G	Likely-pathogenic, pathogenic	Splice donor variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT1082222	hsa-miR-2964a-5p	CLIP-seq
MIRT1082223	hsa-miR-505	CLIP-seq
MIRT2020497	hsa-miR-146b-3p	CLIP-seq
MIRT2020498	hsa-miR-4693-3p	CLIP-seq

148

Show/Hide all (148)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001696	Process	Gastric acid secretion	IEA
GO:0001698	Process	Gastrin-induced gastric acid secretion	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003008	Process	System process	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	12324418, 16002409
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	8900283, 9305853, 17289006, 24595108, 24855057
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 19646991
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	12522251, 24184248, 24269949, 25037568
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12324418, 19521339, 19687231, 20533308, 22024150, 23529131, 24595108
GO:0005516	Function	Calmodulin binding	IDA	18165683
GO:0005516	Function	Calmodulin binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	25037568
GO:0005737	Component	Cytoplasm	IDA	25037568
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	21957902
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	21957902
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	IMP	23529131
GO:0005770	Component	Late endosome	IDA	21957902
GO:0005783	Component	Endoplasmic reticulum	IDA	21228319, 24855057
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IPI	24855057
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	10646604, 21228319, 22024150, 23529131, 24184248, 25037568, 25705178
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007507	Process	Heart development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020846
GO:0007622	Process	Rhythmic behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	16002409, 17289006, 19646991
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IPI	19521339, 25441029
GO:0008157	Function	Protein phosphatase 1 binding	IDA	11799244
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0010460	Process	Positive regulation of heart rate	IMP	19646991
GO:0012505	Component	Endomembrane system	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	9312006, 11101505, 25705178
GO:0015705	Process	Iodide transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	25441029
GO:0016323	Component	Basolateral plasma membrane	IDA	21228319, 21957902
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022600	Process	Digestive system process	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17289006
GO:0032868	Process	Response to insulin	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IDA	11799244
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	11799244
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034702	Component	Monoatomic ion channel complex	IPI	24855057
GO:0034705	Component	Potassium channel complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035934	Process	Corticosterone secretion	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	11101505, 20196769, 24855057, 25037568
GO:0045121	Component	Membrane raft	IDA	20533308, 24855057
GO:0045121	Component	Membrane raft	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045178	Component	Basal part of cell	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050892	Process	Intestinal absorption	ISS
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0051049	Process	Regulation of transport	IEA
GO:0055064	Process	Chloride ion homeostasis	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	8528244
GO:0060117	Process	Auditory receptor cell development	IEA
GO:0060306	Process	Regulation of membrane repolarization	IDA	11299204
GO:0060306	Process	Regulation of membrane repolarization	IMP	8900283
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	8528244
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	12522251
GO:0060452	Process	Positive regulation of cardiac muscle contraction	IMP	19646991
GO:0060453	Process	Regulation of gastric acid secretion	IEA
GO:0060453	Process	Regulation of gastric acid secretion	ISS
GO:0061337	Process	Cardiac conduction	IEA
GO:0062094	Process	Stomach development	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	ISS
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0071320	Process	Cellular response to cAMP	IDA	11299204, 16002409
GO:0071320	Process	Cellular response to cAMP	IMP	18093912
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	9108097
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9354802, 11299204, 16002409, 16556866
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	TAS	11799244
GO:0071875	Process	Adrenergic receptor signaling pathway	IEA
GO:0086003	Process	Cardiac muscle cell contraction	NAS	31834838
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	8528244
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	12522251
GO:0086009	Process	Membrane repolarization	IEA
GO:0086011	Process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086011	Process	Membrane repolarization during action potential	IEA
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	8528244
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	NAS	31834838
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	11299204
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	12522251
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IBA
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	12522251, 25786344
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	8528244
GO:0090102	Process	Cochlea development	IEA
GO:0097110	Function	Scaffold protein binding	IPI	11799244, 16002409, 18093912
GO:0097546	Component	Ciliary base	IEA
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006, 31834838
GO:0098576	Component	Lumenal side of membrane	IEA
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	12522251, 25786344
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IBA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	8528244
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	9305853
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	8528244
GO:1903817	Process	Negative regulation of voltage-gated potassium channel activity	IDA	9305853
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IEA
GO:1990794	Component	Basolateral part of cell	IEA

MIM	HGNC	e!Ensembl
607542	6294	ENSG00000053918

P51787

Protein name

Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon (PubMed:10646604, PubMed:2544

PDB

3BJ4 , 3HFC , 3HFE , 4UMO , 4V0C , 6MIE , 6UZZ , 6V00 , 6V01 , 7VUO , 7VVD , 7VVH , 7XNI , 7XNK , 7XNL , 7XNN , 8SIK , 8SIM , 8SIN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	122 → 359	Ion transport protein	Family
PF03520	KCNQ_channel	482 → 620	KCNQ voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.

Sequence

MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS

Sequence length

676

Interactions

View interactions

	KEGG		Reactome
	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion Pancreatic secretion Protein digestion and absorption Vibrio cholerae infection		Voltage gated Potassium channels Phase 3 - rapid repolarisation Phase 2 - plateau phase

5186

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the cardiovascular system	Pathogenic	rs1554893092	RCV001814172
Atrial fibrillation	Pathogenic	rs120074192, rs199472687, rs199472705	RCV000057673 RCV000057674 RCV000057725
Atrial fibrillation, familial, 3	Likely pathogenic; Pathogenic	rs2133730742, rs120074179, rs120074192, rs120074193, rs794728535, rs2494325585, rs1554958045, rs1435990592, rs1564820372, rs1590081467, rs397508068, rs397508075, rs12720458, rs397508083, rs397508087 View all (28 more)	RCV003458177 RCV005862693 RCV000003293 RCV000762834 RCV005235658 RCV004555152 RCV005049544 RCV002490900 RCV004796281 RCV004796329 RCV002496698 RCV002496699 RCV000762835 RCV002477153 RCV005003442 RCV005222730 RCV006449268 RCV000515204 RCV000762836 RCV002483049 RCV002504937 RCV002496701 RCV002496702 RCV002490606 RCV005862751 RCV004795976 RCV002490607 RCV002504938 RCV002496703 RCV004795977 RCV002483052 RCV002504939 RCV000115009 RCV000115007 RCV001814031 RCV002504940 RCV002483053 RCV002490608 RCV002496704 RCV002496705 RCV005357373 RCV002496706 RCV000115006
Beckwith-Wiedemann syndrome	Pathogenic; Likely pathogenic	rs1800171, rs120074193, rs1435990592, rs397508068, rs397508075, rs12720458, rs397508083, rs397508097, rs199472795, rs199472800, rs199472804, rs199472807, rs199472815, rs397508103, rs139042529 View all (11 more)	RCV002247243 RCV000762834 RCV002490900 RCV002496698 RCV002496699 RCV000762835 RCV002477153 RCV000515204 RCV000762836 RCV002483049 RCV002504937 RCV002496701 RCV002496702 RCV002490606 RCV002490607 RCV002504938 RCV002496703 RCV002483052 RCV002504939 RCV000762833 RCV002504940 RCV002483053 RCV002490608 RCV002496704 RCV002496705 RCV002496706
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs2133992401, rs199473410, rs2133981154, rs2133760795, rs1221462654, rs778786253, rs120074182, rs120074178, rs12720459, rs120074183, rs120074185, rs17215500, rs120074190, rs120074193, rs2493700635 View all (72 more)	RCV001842086 RCV003591880 RCV001842167 RCV003591903 RCV003591905 RCV005403130 RCV001841222 RCV001841223 RCV003591617 RCV005402794 RCV001841224 RCV001841226 RCV001841227 RCV005402795 RCV003591951 RCV001842878 RCV005401364 RCV001842876 RCV001842870 RCV001842872 RCV003591703 RCV005402871 RCV001842944 RCV001842943 RCV005401408 RCV003591726 RCV003592299 RCV003592303 RCV003592305 RCV003592309 RCV005402914 RCV005402806 RCV001841804 RCV005401307 RCV003591636 RCV003155055 RCV001841622 RCV001841623 RCV005401308 RCV001841624 RCV005402827 RCV001841627 RCV001841628 RCV001841629 RCV001841630 RCV001841632 RCV001841633 RCV001841634 RCV001841635 RCV003591637 RCV003591638 RCV001841636 RCV001841638 RCV003591639 RCV001841639 RCV003591641 RCV001841641 RCV001841642 RCV001841645 RCV001841646 RCV001841647 RCV003591642 RCV001841648 RCV005402829 RCV005402830 RCV003591643 RCV003591644 RCV003591645 RCV001841649 RCV003591647 RCV001841651 RCV003591648 RCV001841652 RCV001841653 RCV005402831 RCV005401309 RCV003591649 RCV001841654 RCV001841656 RCV001841658 RCV003591650 RCV005402832 RCV001841672 RCV003591657 RCV001841685 RCV001841689 RCV005402840 RCV001842733 RCV001840992 RCV001843139 RCV001841047 RCV001841096 RCV001841183
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2133992401, rs2133758591, rs199473410, rs2133728692, rs2133560315, rs2133733071, rs2133754863, rs2133855926, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074184 View all (136 more)	RCV002405214 RCV002414255 RCV003298922 RCV002359276 RCV005654904 RCV002370612 RCV002443029 RCV005361911 RCV005403712 RCV002444417 RCV000588393 RCV000619506 RCV000620696 RCV000621485 RCV000619686 RCV002371756 RCV000618290 RCV000622153 RCV000251958 RCV000622131 RCV000621184 RCV000619349 RCV000622145 RCV002408447 RCV002415391 RCV002385621 RCV002389178 RCV002414583 RCV002428060 RCV002455448 RCV002424342 RCV002453656 RCV002326984 RCV005404347 RCV002372112 RCV005404346 RCV000619144 RCV002381588 RCV000620890 RCV003274058 RCV002399649 RCV002399652 RCV002399650 RCV000621754 RCV003182734 RCV000253252 RCV000617940 RCV003311290 RCV003350693 RCV003360857 RCV004022561 RCV002356776 RCV002350108 RCV000619399 RCV000618395 RCV000252730 RCV000620423 RCV000619078 RCV000620682 RCV000618009 RCV005652423 RCV006342463 RCV005652438 RCV005582440 RCV003279119 RCV005403745 RCV002336178 RCV000621148 RCV000617516 RCV003362679 RCV002381340 RCV003162395 RCV003162396 RCV002408545 RCV000617465 RCV003162397 RCV000617196 RCV004991997 RCV000618916 RCV000588183 RCV002453353 RCV000253347 RCV002444506 RCV002444507 RCV002381341 RCV004018942 RCV002390192 RCV002390193 RCV000617855 RCV002399405 RCV004017348 RCV000621710 RCV004017349 RCV000619891 RCV005582261 RCV002390194 RCV000619557 RCV000619418 RCV002399406 RCV002399407 RCV000250706 RCV002408546 RCV002399408 RCV000247524 RCV000620919 RCV002408547 RCV000622116 RCV002321544 RCV002453354 RCV002453355 RCV004991998 RCV002336179 RCV000618367 RCV000588586 RCV000618982 RCV002336181 RCV004018949 RCV002345338 RCV002336182 RCV003162398 RCV000244422 RCV000620835 RCV002345339 RCV004017353 RCV000617403 RCV000244400 RCV000590377 RCV002354240 RCV000620936 RCV002362677 RCV002362679 RCV002371883 RCV002371885 RCV002381342 RCV002381343 RCV000620025 RCV004018951 RCV000619999 RCV002408548 RCV002408549 RCV004018952 RCV002415499 RCV000250332 RCV002415500 RCV000619785 RCV002371886 RCV000619717 RCV002444508 RCV002371887 RCV000621036 RCV002444509 RCV002371888 RCV000619103 RCV000586037 RCV002381344 RCV000247480 RCV002371889 RCV003298093 RCV000617913 RCV002399418 RCV000619224 RCV000249066 RCV000621525 RCV002345367 RCV004018998 RCV002444516 RCV002371901 RCV002379703 RCV005405562
Congenital long QT syndrome	Likely pathogenic; Pathogenic	rs2133733071, rs120074177, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs1800171 View all (115 more)	RCV004017886 RCV000057693 RCV000057797 RCV000057808 RCV000057706 RCV000057749 RCV000057769 RCV000057526 RCV000057536 RCV000057810 RCV000057613 RCV000057796 RCV000614524 RCV000057600 RCV004017223 RCV000057632 RCV000057633 RCV000057662 RCV000057765 RCV000057766 RCV000057743 RCV000169662 RCV004786498 RCV000609648 RCV001449695 RCV000825591 RCV001449794 RCV001449795 RCV000825589 RCV004018005 RCV004018386 RCV000057792 RCV000119056 RCV000825588 RCV000825532 RCV000825590 RCV000057523 RCV000057525 RCV000057529 RCV000057530 RCV000057534 RCV000057535 RCV000057538 RCV004017346 RCV000057548 RCV000057551 RCV000057552 RCV000057553 RCV000057554 RCV000057555 RCV000057558 RCV000057563 RCV001449696 RCV000614087 RCV004017347 RCV000057592 RCV000057597 RCV000057599 RCV000057604 RCV000057608 RCV000057614 RCV000057618 RCV000057619 RCV000057620 RCV000057622 RCV000057623 RCV000057635 RCV000057636 RCV000057637 RCV000057638 RCV001195549 RCV000057659 RCV000057660 RCV000057661 RCV000826192 RCV000217623 RCV000057684 RCV000057685 RCV000057686 RCV000057688 RCV000057689 RCV000057690 RCV000057691 RCV000057692 RCV000057694 RCV000057698 RCV000057704 RCV000057705 RCV000602841 RCV000599840 RCV000057718 RCV000057730 RCV000057732 RCV000057733 RCV000057734 RCV000057735 RCV000057738 RCV000057741 RCV000057742 RCV000057748 RCV000057751 RCV000057754 RCV000057755 RCV000057756 RCV000057757 RCV000057758 RCV000057760 RCV000057762 RCV000057763 RCV000057767 RCV000057770 RCV000057774 RCV000057775 RCV000057777 RCV000057794 RCV000826193 RCV000057803 RCV000057804 RCV000057811 RCV000057813 RCV000057815 RCV000057816 RCV000057817 RCV000057818 RCV000057820 RCV000057822 RCV000057828 RCV000057829 RCV000057831 RCV000057832 RCV000057527 RCV000057533 RCV000057545 RCV000057568 RCV000057598 RCV000057605 RCV000057612 RCV000057615 RCV000057697 RCV000057699 RCV000057707 RCV000057716 RCV000057720 RCV000057729 RCV000057739 RCV000057740 RCV000057744 RCV000057753 RCV000057759 RCV000057778 RCV000057781 RCV000057791 RCV000057793 RCV000057798 RCV000057824
Ear malformation	Likely pathogenic; Pathogenic	rs397508083	RCV001814030
Familial prostate cancer	Pathogenic	rs2133650175	RCV005922851
Hearing impairment	Pathogenic	rs878854347	RCV005621908
Jervell and Lange-Nielsen syndrome	Pathogenic; Likely pathogenic	rs120074179, rs786204778, rs794728565, rs1846719993, rs1060500629, rs397508083, rs397508111, rs397508112, rs397508118, rs199472702, rs120074196	RCV005862693 RCV000169662 RCV000609648 RCV004018241 RCV004689741 RCV003318348 RCV005862751 RCV000217623 RCV000602841 RCV003492374 RCV003482908
Jervell and Lange-Nielsen syndrome 1	Likely pathogenic; Pathogenic	rs2133730742, rs120074186, rs17215500, rs120074189, rs120074190, rs120074193, rs1554958045, rs1554919471, rs1554893092, rs1435990592, rs1554903804, rs1554920833, rs1564820372, rs1590081467, rs397508068 View all (38 more)	RCV003458177 RCV000003275 RCV001847566 RCV000003286 RCV000003289 RCV000762834 RCV000656433 RCV000590985 RCV000625528 RCV002490900 RCV000590976 RCV000600343 RCV004796281 RCV004796329 RCV002496698 RCV001258105 RCV002496699 RCV000762835 RCV004760361 RCV002251734 RCV002477153 RCV005003442 RCV005222730 RCV000515204 RCV000762836 RCV000003272 RCV002483049 RCV002504937 RCV002496701 RCV001258107 RCV000003285 RCV000003281 RCV004795976 RCV002490607 RCV002504938 RCV002496703 RCV001258060 RCV000003273 RCV004795977 RCV000144973 RCV002483052 RCV002504939 RCV000762833 RCV001807770 RCV004795978 RCV002504940 RCV002483053 RCV002490608 RCV002496704 RCV002496705 RCV005867833 RCV005357373 RCV002496706 RCV001290956
KCNQ1-related disorder	Likely pathogenic; Pathogenic	rs17215500, rs120074189, rs120074194, rs397508109, rs1435990592, rs151344631, rs397508075, rs12720458, rs397508097, rs199472795, rs397508103, rs397508112, rs199473394, rs397508117, rs397508118 View all (9 more)	RCV000779058 RCV004732528 RCV004540987 RCV004537528 RCV004537868 RCV005229835 RCV004732637 RCV003335077 RCV004528255 RCV004732638 RCV004537220 RCV004724784 RCV004542712 RCV004724785 RCV003335078 RCV003335079 RCV003335080 RCV004542713 RCV001813753 RCV004528256 RCV005222731 RCV005250009 RCV002298855 RCV003336285
KCNQ1-related epilepsy	Pathogenic	rs397508090	RCV001838979
Long QT syndrome	Pathogenic; Likely pathogenic	rs199473479, rs1848577150, rs120074189, rs199472750, rs1564820836, rs771458482, rs775537394, rs2133559667, rs2133560305, rs2133560394, rs2133758295, rs1848631690, rs2133990821, rs2133992401, rs199473410 View all (258 more)	RCV001317809 RCV001341790 RCV001340233 RCV001365655 RCV001378656 RCV001378172 RCV001377231 RCV001385612 RCV001387614 RCV001388735 RCV001389871 RCV001380620 RCV001381041 RCV003771586 RCV002032550 RCV002032853 RCV003647857 RCV003772365 RCV001934421 RCV001957847 RCV001930382 RCV002037701 RCV001929608 RCV001939479 RCV001935517 RCV001970148 RCV001953881 RCV001992492 RCV002014518 RCV001919769 RCV002007227 RCV001962891 RCV001939513 RCV001895718 RCV001920661 RCV002036179 RCV001920902 RCV001953579 RCV002042088 RCV002015858 RCV002015865 RCV001976987 RCV001955483 RCV002001638 RCV001984072 RCV001386969 RCV000046088 RCV000190212 RCV001192509 RCV000045932 RCV000171124 RCV002512696 RCV000852434 RCV000046011 RCV001385529 RCV000148548 RCV001851605 RCV002512697 RCV000045941 RCV000046026 RCV000699476 RCV001349040 RCV000477568 RCV000046133 RCV003533224 RCV005097681 RCV003058273 RCV003062314 RCV003114330 RCV001385666 RCV000477502 RCV003532029 RCV000473506 RCV001852299 RCV001245469 RCV002517778 RCV003114331 RCV001383970 RCV001852302 RCV001852303 RCV001852304 RCV003857294 RCV003532028 RCV001382717 RCV000631591 RCV001068648 RCV000631611 RCV000816739 RCV002857762 RCV000537287 RCV002517776 RCV000704132 RCV003532031 RCV000815960 RCV001225064 RCV000190163 RCV002517025 RCV000801452 RCV000456381 RCV000461061 RCV002824447 RCV002815925 RCV002856814 RCV002857006 RCV002838428 RCV002876361 RCV002877295 RCV003019541 RCV003040375 RCV003044588 RCV003044271 RCV000206337 RCV000229159 RCV000230409 RCV001859449 RCV000814153 RCV005102440 RCV003318431 RCV003318442 RCV003533868 RCV003534186 RCV003534066 RCV003534286 RCV003534248 RCV003534268 RCV003531690 RCV003531560 RCV003531724 RCV003531748 RCV003532506 RCV004011474 RCV004011476 RCV004011477 RCV004011478 RCV003647508 RCV003647625 RCV003647685 RCV003647713 RCV003648323 RCV003648391 RCV003648338 RCV003648399 RCV003648895 RCV003648949 RCV003827451 RCV003842940 RCV004556784 RCV000472738 RCV000467468 RCV000471238 RCV000459171 RCV000477059 RCV000460244 RCV000467059 RCV000472268 RCV000458842 RCV000464076 RCV000459335 RCV000806220 RCV000631616 RCV000552160 RCV005091203 RCV003532152 RCV000030111 RCV000148547 RCV000548008 RCV000814151 RCV001208025 RCV000631555 RCV000631589 RCV003647798 RCV000678813 RCV000692678 RCV000694551 RCV000706798 RCV000704706 RCV000698644 RCV000695220 RCV000691158 RCV000691481 RCV000705141 RCV000811148 RCV000821537 RCV000812459 RCV000823765 RCV000817822 RCV000806826 RCV001388701 RCV000845367 RCV003318389 RCV000045928 RCV002514220 RCV000045930 RCV000845338 RCV001387951 RCV001384422 RCV000190169 RCV005089428 RCV000045943 RCV001377773 RCV000045950 RCV000045954 RCV000045957 RCV000045959 RCV001384915 RCV002514222 RCV001350647 RCV000045965 RCV003531941 RCV000045968 RCV001213769 RCV000045977 RCV003531942 RCV001380029 RCV000045982 RCV001852970 RCV000622334 RCV000045993 RCV000045995 RCV000045999 RCV000046000 RCV000046003 RCV001857383 RCV000046006 RCV000046008 RCV000046012 RCV000046014 RCV000046015 RCV000046016 RCV001192510 RCV005089429 RCV003531943 RCV002513651 RCV001388792 RCV000046031 RCV000046032 RCV001386478 RCV000046039 RCV000046040 RCV002513652 RCV001378785 RCV001312785 RCV001061673 RCV000046061 RCV001215919 RCV000046066 RCV000627154 RCV001385526 RCV000046070 RCV000046072 RCV001386000 RCV000148553 RCV000148544 RCV003996475 RCV000046086 RCV001380572 RCV000233139 RCV000196205 RCV001379267 RCV000046103 RCV001320480 RCV001385527 RCV000046107 RCV000046108 RCV000046110 RCV000046111 RCV001385528 RCV001852977 RCV000046123 RCV000046124 RCV001390400 RCV001368546 RCV001381194 RCV001038095 RCV000046131 RCV000046134 RCV001852978 RCV001346356 RCV001209649 RCV000046141 RCV000046142 RCV000046143 RCV001050219 RCV003531945 RCV000046150 RCV001377884 RCV001379437 RCV001852980 RCV005089431 RCV002514226 RCV001387949 RCV000678812 RCV003531946 RCV001368547 RCV005089432 RCV001389796 RCV001387950 RCV001386679 RCV000190213 RCV000046184 RCV001382530 RCV002513746 RCV001212181 RCV000556413 RCV001226497 RCV001380059 RCV000468931 RCV001349041 RCV003996517 RCV000698459 RCV000232681 RCV000754820 RCV000476524 RCV000631706 RCV000631660 RCV001854184 RCV000204994 RCV000689954 RCV002513752 RCV001206137 RCV002549213 RCV001057999 RCV002549288 RCV001061339 RCV001044668 RCV001067817 RCV001044364 RCV001047249 RCV001862701 RCV001390367 RCV001209167 RCV001234269 RCV001241380 RCV001239995 RCV001228784 RCV001301619
Long QT syndrome 1	Likely pathogenic; Pathogenic	rs2133758591, rs2133728692, rs2133730742, rs397508130, rs1205552952, rs2493667554, rs2493696044, rs120074177, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183 View all (145 more)	RCV001729942 RCV001839468 RCV003458177 RCV003319486 RCV002287218 RCV002288332 RCV002308729 RCV000003260 RCV000003262 RCV000003263 RCV000003264 RCV000003265 RCV000003266 RCV000003267 RCV000003269 RCV000003270 RCV000003271 RCV000003274 RCV000515748 RCV000003282 RCV000003283 RCV003319300 RCV000003288 RCV000003290 RCV000003294 RCV000003295 RCV000678927 RCV000193564 RCV005860025 RCV006449270 RCV000709730 RCV000678956 RCV003319329 RCV001256916 RCV004786497 RCV000678937 RCV003319330 RCV000770826 RCV000234787 RCV000234798 RCV000234800 RCV000234808 RCV000234796 RCV003159082 RCV000239665 RCV000240629 RCV003228734 RCV003326392 RCV000477871 RCV003319344 RCV003485922 RCV003485923 RCV003319960 RCV003319961 RCV003319962 RCV003319963 RCV003319964 RCV003319965 RCV003319967 RCV003319968 RCV003319971 RCV003324633 RCV005623110 RCV004555152 RCV004555195 RCV005049544 RCV003319353 RCV000590986 RCV000496806 RCV000520192 RCV002490900 RCV000709734 RCV000030815 RCV006257307 RCV000625723 RCV001258362 RCV002298736 RCV000678948 RCV004796281 RCV000714903 RCV003319418 RCV000790441 RCV004796329 RCV000515709 RCV002496698 RCV000003277 RCV002470738 RCV000577113 RCV000678957 RCV002496699 RCV000762835 RCV000496023 RCV002054871 RCV002054872 RCV000576927 RCV003319305 RCV004786318 RCV001248795 RCV002477153 RCV000577086 RCV003319306 RCV003319307 RCV005222730 RCV000577463 RCV000577184 RCV000735257 RCV004786319 RCV000515204 RCV000762836 RCV001807769 RCV002483049 RCV000477954 RCV001258363 RCV002496701 RCV000239705 RCV000577806 RCV004795975 RCV000678914 RCV001258107 RCV002490606 RCV004576918 RCV000003284 RCV004786322 RCV000851189 RCV000709731 RCV000003259 RCV000234807 RCV000577363 RCV003319309 RCV002490607 RCV000587627 RCV000984322 RCV001028063 RCV000003297 RCV000234794 RCV000988472 RCV003319311 RCV002259313 RCV000853261 RCV002483052 RCV001256914 RCV000240642 RCV000115008 RCV003319312 RCV004786323 RCV004786324 RCV001258361 RCV006249577 RCV000678929 RCV000709733 RCV000735818 RCV002483053 RCV002490608 RCV000239632 RCV000239635 RCV003319313 RCV002496704 RCV002496705 RCV000709732 RCV003327365 RCV001258360 RCV004786326 RCV001248782 RCV002496706 RCV003333023 RCV000584804 RCV004786336 RCV000779057 RCV000678947 RCV003227632 RCV003330079 RCV003159095 RCV001003476 RCV001089529 RCV001089528 RCV001089525 RCV001089527 RCV001089535 RCV001195882 RCV003314678 RCV001262826 RCV001262863 RCV001280836
Long QT syndrome 1, recessive	Likely pathogenic; Pathogenic	rs17215500, rs120074188	RCV000003279 RCV000003280
Long QT syndrome 1/2, digenic	Pathogenic	rs12720459, rs120074196, rs397508116	RCV000003268 RCV000003300 RCV000003299
Long QT syndrome 2	Pathogenic	rs1800171	RCV000498423
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs17215500, rs199472719	RCV005862694 RCV005859485
Prolonged QT interval	Likely pathogenic; Pathogenic	rs1564821090	RCV000678458
Rare genetic deafness	Likely pathogenic; Pathogenic	rs397508112	RCV000217623
Recurrent spontaneous abortion	Pathogenic	rs199472695	RCV001530975
Short QT syndrome type 1	Likely pathogenic; Pathogenic	rs199473457	RCV006436418
Short QT syndrome type 2	Likely pathogenic; Pathogenic	rs2133730742, rs120074179, rs120074193, rs2494325585, rs1554958045, rs1057519584, rs1435990592, rs1564820372, rs1590081467, rs397508068, rs397508075, rs12720458, rs397508083, rs397508087, rs397508090 View all (25 more)	RCV003458177 RCV005862693 RCV000762834 RCV004555152 RCV005049544 RCV000417068 RCV002490900 RCV004796281 RCV004796329 RCV002496698 RCV002496699 RCV000762835 RCV002477153 RCV005003442 RCV005222730 RCV000515204 RCV000762836 RCV002483049 RCV002504937 RCV002496701 RCV002496702 RCV002490606 RCV005862751 RCV004795976 RCV002490607 RCV002504938 RCV002496703 RCV004795977 RCV002483052 RCV002504939 RCV000762833 RCV001814031 RCV002504940 RCV002483053 RCV002490608 RCV002496704 RCV002496705 RCV005357373 RCV002496706 RCV000417071
Wolff-Parkinson-White pattern	Likely pathogenic; Pathogenic	rs199472712	RCV000656159

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acquired susceptibility to long QT syndrome 1	Conflicting classifications of pathogenicity	rs17221854	RCV000003292
Autosomal dominant KCNQ1-related disease	Uncertain significance	rs1589956747, rs1048449968	RCV000985037 RCV000985027
Brugada syndrome	Uncertain significance	rs775608046	RCV000498969
Cardiomyopathy	Conflicting classifications of pathogenicity	rs12720457	RCV000852645
Conduction disorder of the heart	Uncertain significance	rs1589884210	RCV000845349
Familial atrial fibrillation	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs200670744, rs374767819, rs188083723, rs886048166, rs142023323, rs886048169, rs762386874, rs886048170, rs201364493, rs72850203, rs146407692, rs200391321, rs886048165, rs886048175, rs546360517 View all (13 more)	RCV000325299 RCV000262598 RCV000327250 RCV000290090 RCV000293137 RCV000375595 RCV000261614 RCV000313034 RCV000325517 RCV000365687 RCV000338590 RCV000363774 RCV000304914 RCV000299683 RCV000329144 RCV000389035 RCV000376919 RCV000333235 RCV000270782 RCV000395201 RCV000313543 RCV000315778 RCV000335358 RCV000315501 RCV000288573 RCV000330352 RCV000356516 RCV000337547
Hypertrophic cardiomyopathy	Likely benign	rs143709408	RCV000852644
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs794728523	RCV005892105
Paroxysmal atrial fibrillation	Conflicting classifications of pathogenicity	rs397508073	RCV004801915
Polymorphic ventricular tachycardia	Uncertain significance	rs939431028	RCV003163439
Short QT syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs200670744, rs120074195, rs374767819, rs188083723, rs886048166, rs142023323, rs886048169, rs762386874, rs886048170, rs201364493, rs72850203, rs146407692, rs200391321, rs886048165, rs886048175 View all (13 more)	RCV000270219 RCV000057800 RCV000301238 RCV000346907 RCV000384513 RCV000390650 RCV000331378 RCV000319600 RCV000397713 RCV000285772 RCV000379257 RCV000281229 RCV000266763 RCV000394371 RCV000377880 RCV000383802 RCV000349594 RCV000263850 RCV000373591 RCV000363424 RCV000279834 RCV000277228 RCV000354165 RCV000283601 RCV000274570 RCV000351682 RCV000275258 RCV000398200
Sudden cardiac death	Uncertain significance	rs1849966701	RCV001290973
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity; Uncertain significance	rs199472768, rs199472783, rs199472811, rs199472817, rs199472728	RCV000057559 RCV000148556 RCV000057630 RCV000057640 RCV000148546
Torsades de pointes	Uncertain significance	rs36210419	RCV000057728
Uterine carcinosarcoma	Uncertain significance	rs199473464	RCV005890345
Ventricular fibrillation	Likely benign	rs397515877	RCV000852643

Show/Hide Text Mining Associations (129)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21138517
Adenocarcinoma of Lung	Associate	34111567, 35216393
Andersen Syndrome	Associate	18452873
Arrhythmias Cardiac	Associate	12442276, 12702160, 17905416, 17999538, 18093912, 18192214, 18308161, 18365896, 18426444, 19822806, 21952006, 22508963, 24769622, 27707468, 28814790 View all (11 more)
Arrhythmias Cardiac	Inhibit	18426444
Arrhythmogenic Right Ventricular Dysplasia	Associate	25616976
Ataxia Telangiectasia	Associate	32443288
Atrial Fibrillation	Associate	17276182, 17999538, 18452873, 19632626, 19646991, 20850564, 22471742, 22508963, 22818067, 23350853, 23710137, 24460807, 26922794, 29488358, 32164657 View all (4 more)
Attention Deficit Disorder with Hyperactivity	Associate	34142889
Autosomal Recessive Primary Microcephaly	Associate	32048431
Beckwith Wiedemann Syndrome	Associate	10220444, 10712200, 11106355, 16882733, 22205991, 32393365, 34107024, 9311734
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	32393365
Borderline Personality Disorder	Associate	24367640
Brugada Syndrome	Associate	27707468, 36197721
Carcinogenesis	Associate	34111567
Carcinoma Hepatocellular	Associate	34008749
Carcinoma Renal Cell	Associate	22610075
Cardiomyopathies	Associate	33484326
Cardiomyopathy Dilated	Associate	25616976, 29071820
Cardiomyopathy Hypertrophic	Associate	24183960
Cardiovascular Diseases	Associate	12849668, 25087618, 28253292, 30866607
Cerebral Infarction	Associate	25429063
Channelopathies	Associate	24769622, 25645639, 29544605, 35543671, 35932045
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	27175665
Colitis Ulcerative	Associate	26718405
Colorectal Neoplasms	Associate	26868975, 27855440, 31909901, 35395779
Congenital disorder of glycosylation type 1K	Associate	29855564
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30571187
Coronary Artery Disease	Associate	20701788, 33752320
Coronary Disease	Associate	27091178
Deafness	Associate	12083723, 17999538, 23392653, 24769622, 32508908, 36674868
Deafness X Linked 1	Associate	20890437
Death	Associate	12702160, 17010804
Death Sudden	Associate	12442276, 12702160, 15120823, 17222736, 18808722, 20400777, 23392653, 25645639, 29855564, 30461122, 31565860, 36232963
Death Sudden Cardiac	Associate	12598076, 15234419, 16436635, 18651418, 20400777, 20662986, 20920651, 21895724, 22293141, 22456477, 23350853, 23853484, 29439887, 29622001, 30461122 View all (8 more)
Depressive Disorder	Associate	30458022
Diabetes Complications	Associate	33752320
Diabetes Gestational	Associate	23364967, 25973943, 32390949, 34928995, 37107681
Diabetes Gestational	Inhibit	32390949
Diabetes Mellitus	Associate	19448982, 19516902, 22479571, 23139357, 23630301, 26540651, 26825526, 27281273, 27323013, 30157802, 33479058, 33484326, 34750480, 35163587
Diabetes Mellitus Type 2	Associate	19252135, 19366866, 19401414, 19448982, 19516902, 19584308, 20056949, 20174558, 20509872, 20581827, 20701788, 21103332, 21261977, 21709633, 21799836 View all (52 more)
Diabetic Nephropathies	Associate	20056949
Diarrhea	Associate	26718405
Disease	Associate	26678516
Drowning	Associate	21964171
Drug Related Side Effects and Adverse Reactions	Associate	34622280
Ectodermal Dysplasia	Associate	34750480
Epilepsy	Associate	24769622, 25645639, 29261713, 33484326
Epilepsy Post Traumatic	Associate	21139297
Fetal Death	Associate	23571586
Fetal Distress	Associate	17010804
Fetal Growth Retardation	Stimulate	24986528
Glaucoma Related Pigment Dispersion Syndrome	Associate	9708480
Gout	Associate	25967671, 29879923
Hearing Loss	Associate	27194473, 29270100
Hearing Loss Sensorineural	Associate	14510661, 20146813, 23392653, 33484326
Heart Arrest	Associate	22293141, 22456477, 24552659, 31398660, 33574382
Heart Diseases	Associate	23392653, 25616976, 29439887, 29532034, 36674868, 39388802, 9753711
Hereditary bundle branch system defect	Associate	21138517
Hyperinsulinism	Associate	32164657
Hypertension	Associate	17276182, 26678516, 33752320
Hypertensive Retinopathy	Associate	22403629
Hypoglycemia	Associate	32164657
Hypokalemia	Associate	24373870
Immunologic Deficiency Syndromes	Inhibit	27194473
Inflammation	Associate	25967671
Insulin Resistance	Associate	19252135, 27857189, 30641161
Insulinoma	Associate	37107681
Jervell Lange Nielsen Syndrome	Associate	11216980, 14510661, 18400097, 19027783, 20890437, 23392653, 24552659, 25187895, 25453094, 25471708, 28364778, 28595573, 29037160, 29270100, 29677589 View all (7 more)
Kidney Diseases	Associate	20056949, 22403629, 33752320
Klippel Trenaunay Weber Syndrome	Associate	27855440
Liver Diseases	Associate	26678516
Long QT Syndrome	Associate	10483966, 11216980, 11686910, 12442276, 12598076, 12702160, 12736279, 12849668, 14510661, 14998624, 15234419, 16487223, 16542208, 16723781, 17192539 View all (129 more)
Long QT Syndrome	Stimulate	17222736
Long Qt Syndrome 5	Associate	19340287
Long QT syndrome type 3	Associate	23571586
Lung Neoplasms	Associate	35216393
Menstruation Disturbances	Associate	35765105
Metabolic Diseases	Associate	28253292, 37460236
Metabolic Syndrome	Associate	26599349, 30157802
Microsatellite Instability	Inhibit	27855440
Mitochondrial Diseases	Associate	33484326
Mitochondrial encephalopathy	Associate	33484326
Myocardial Infarction	Associate	18651418
Neoplasm Invasiveness	Associate	35395779
Neoplasms	Inhibit	27855440, 35216393
Neoplasms	Associate	28837395, 31909901, 33682985, 34505893, 9403053
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	28249770
Obesity	Associate	23825961, 25429063, 25651499
Obesity Abdominal	Inhibit	26599349
Obesity Abdominal	Associate	26599349
Osteosarcoma	Associate	31909901
Ovarian Neoplasms	Associate	31909901
Overweight	Associate	35295960
Pancreatic Neoplasms	Associate	25516658
Paralysis Hyperkalemic Periodic	Associate	26669661, 29532034
Paroxysmal ventricular fibrillation	Associate	23853484
Pediatric acute onset neuropsychiatric syndrome	Associate	30458022
Placenta Accreta	Associate	39294759
Post Acute COVID 19 Syndrome	Associate	21185499, 24388587, 35409410, 36674868, 37449562, 38446445, 8996300
Pre Eclampsia	Associate	39294759
Prostatic Neoplasms	Associate	23193118
Pulmonary Arterial Hypertension	Associate	34349187
Renal cell carcinoma 1	Associate	22025662
Romano Ward Syndrome	Associate	11216980, 12808265, 17010804, 17470695, 18093912, 18308161, 18400097, 18713323, 19027783, 19114714, 20044973, 20660394, 20850564, 21496168, 22293141 View all (42 more)
Rufous oculocutaneous albinism	Inhibit	27855440
Seizures	Associate	20890437, 25645639, 29672598, 33484326
Short QT Syndrome 1	Associate	17905416, 20850564, 28814790, 30866607, 34557911
Sick Sinus Syndrome	Associate	14998624, 27539165
Sleep Apnea Obstructive	Associate	27543307
Smoke Inhalation Injury	Associate	26825526
Stomach Neoplasms	Associate	33100093, 33682985
Stroke	Associate	25429063, 29488358, 35544069
Substance Related Disorders	Associate	35590255
Sudden Infant Death	Associate	17999538, 29544605
Sudden Unexpected Death in Epilepsy	Associate	23098067, 34843966
Syncope	Associate	12442276, 16436635, 20890437, 20920651, 22293141, 23350853, 28364778, 29439887, 33141630, 33574382, 34411974, 36635780, 39388802, 39595626
Syndrome	Associate	25645639, 35887302, 36674868
Systemic carnitine deficiency	Associate	22293141, 24667783
Tachycardia Atrioventricular Nodal Reentry	Associate	27855440
Tachycardia Ventricular	Associate	25616976, 35357185
Tinnitus	Associate	34282101
Torsades de Pointes	Associate	18808722, 21139297, 30568157
Ventricular Dysfunction	Associate	16723781, 23350853
Ventricular Fibrillation	Associate	24373870, 26118593, 29488358, 30866607
Ventricular Outflow Obstruction	Stimulate	25692982
Vestibular Diseases	Associate	25471708
Weight Gain	Associate	20816152
Wilms Tumor	Associate	11056398

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)