EFHC1 (EF-hand domain containing 1)

Gene

• Entrez ID: 114327
• Gene name: EF-hand domain containing 1
• Gene symbol: EFHC1
• Synonyms (NCBI Gene): EJM1, POC9, RIB72, dJ304B14.2
• Chromosome: 6
• Chromosome location: 6p12.2
• Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs59794069	ATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATA	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, non coding transcript variant
rs79761183	G>A,C	Benign-likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs137852776	T>C	Conflicting-interpretations-of-pathogenicity, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852777	G>A	Pathogenic, risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852778	G>A,T	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852779	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852780	G>A	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs137852781	C>T	Risk-factor	Non coding transcript variant, stop gained, coding sequence variant
rs139197513	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs140429638	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs142458862	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149055334	C>A	Risk-factor, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs149998588	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, non coding transcript variant
rs200435907	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200510672	G>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, missense variant
rs369503191	A>C	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs371151471	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs372507832	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377227885	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs377732929	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs796052414	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs796052421	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1057521631	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050971	hsa-miR-17-5p	CLASH	23622248
MIRT509176	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	HITS-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	HITS-CLIP	21572407
MIRT509173	hsa-miR-3163	HITS-CLIP	21572407
MIRT509171	hsa-miR-3668	HITS-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	HITS-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	HITS-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	HITS-CLIP	21572407
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569347	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569341	hsa-miR-6868-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	21572407
MIRT509173	hsa-miR-3163	PAR-CLIP	21572407
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509171	hsa-miR-3668	PAR-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	21572407
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516259	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT516258	hsa-miR-3177-5p	PAR-CLIP	23446348
MIRT516257	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	HITS-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	HITS-CLIP	21572407
MIRT509173	hsa-miR-3163	HITS-CLIP	21572407
MIRT509171	hsa-miR-3668	HITS-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	HITS-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	HITS-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	HITS-CLIP	21572407
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT569357	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569356	hsa-miR-3922-5p	PAR-CLIP	20371350
MIRT569355	hsa-miR-3155a	PAR-CLIP	20371350
MIRT569354	hsa-miR-3155b	PAR-CLIP	20371350
MIRT569353	hsa-miR-484	PAR-CLIP	20371350
MIRT569352	hsa-miR-3183	PAR-CLIP	20371350
MIRT569351	hsa-miR-4723-3p	PAR-CLIP	20371350
MIRT569350	hsa-miR-6769b-3p	PAR-CLIP	20371350
MIRT569349	hsa-miR-6734-3p	PAR-CLIP	20371350
MIRT569348	hsa-miR-3667-3p	PAR-CLIP	20371350
MIRT569347	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT569346	hsa-miR-7110-3p	PAR-CLIP	20371350
MIRT569344	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT569345	hsa-miR-7111-3p	PAR-CLIP	20371350
MIRT569343	hsa-miR-6780a-3p	PAR-CLIP	20371350
MIRT569342	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT569341	hsa-miR-6868-3p	PAR-CLIP	20371350
MIRT569340	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT569339	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	21572407
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	21572407
MIRT509173	hsa-miR-3163	PAR-CLIP	21572407
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509171	hsa-miR-3668	PAR-CLIP	21572407
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	21572407
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	21572407
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516259	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT516258	hsa-miR-3177-5p	PAR-CLIP	23446348
MIRT516257	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT509176	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509175	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT509174	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT509173	hsa-miR-3163	PAR-CLIP	23446348
MIRT509172	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509171	hsa-miR-3668	PAR-CLIP	23446348
MIRT509170	hsa-miR-7852-3p	PAR-CLIP	23446348
MIRT509168	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT509169	hsa-miR-4732-5p	PAR-CLIP	23446348
MIRT509167	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT953739	hsa-miR-106a	CLIP-seq
MIRT953740	hsa-miR-106b	CLIP-seq
MIRT953741	hsa-miR-1207-3p	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953744	hsa-miR-128	CLIP-seq
MIRT953745	hsa-miR-1285	CLIP-seq
MIRT953746	hsa-miR-1286	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953748	hsa-miR-1301	CLIP-seq
MIRT953749	hsa-miR-145	CLIP-seq
MIRT953750	hsa-miR-17	CLIP-seq
MIRT953751	hsa-miR-1827	CLIP-seq
MIRT953752	hsa-miR-18a	CLIP-seq
MIRT953753	hsa-miR-18b	CLIP-seq
MIRT953754	hsa-miR-20a	CLIP-seq
MIRT953755	hsa-miR-20b	CLIP-seq
MIRT953756	hsa-miR-219-2-3p	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT953761	hsa-miR-2964a-3p	CLIP-seq
MIRT953762	hsa-miR-31	CLIP-seq
MIRT953763	hsa-miR-3135b	CLIP-seq
MIRT953764	hsa-miR-3187-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT953766	hsa-miR-3192	CLIP-seq
MIRT953767	hsa-miR-3194-3p	CLIP-seq
MIRT953768	hsa-miR-3200-5p	CLIP-seq
MIRT953769	hsa-miR-326	CLIP-seq
MIRT953770	hsa-miR-330-3p	CLIP-seq
MIRT953771	hsa-miR-330-5p	CLIP-seq
MIRT953772	hsa-miR-3609	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT953774	hsa-miR-3613-3p	CLIP-seq
MIRT953775	hsa-miR-3614-5p	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953780	hsa-miR-3907	CLIP-seq
MIRT953781	hsa-miR-3929	CLIP-seq
MIRT953782	hsa-miR-3938	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953785	hsa-miR-4294	CLIP-seq
MIRT953786	hsa-miR-4314	CLIP-seq
MIRT953787	hsa-miR-4419b	CLIP-seq
MIRT953788	hsa-miR-4422	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953791	hsa-miR-4459	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953793	hsa-miR-4478	CLIP-seq
MIRT953794	hsa-miR-4493	CLIP-seq
MIRT953795	hsa-miR-4496	CLIP-seq
MIRT953796	hsa-miR-4505	CLIP-seq
MIRT953797	hsa-miR-4646-5p	CLIP-seq
MIRT953798	hsa-miR-4649-3p	CLIP-seq
MIRT953799	hsa-miR-4660	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT953801	hsa-miR-4711-3p	CLIP-seq
MIRT953802	hsa-miR-4712-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953805	hsa-miR-4735-3p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953808	hsa-miR-4796-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953810	hsa-miR-490-3p	CLIP-seq
MIRT953811	hsa-miR-5047	CLIP-seq
MIRT953812	hsa-miR-519d	CLIP-seq
MIRT953813	hsa-miR-548ah	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953815	hsa-miR-592	CLIP-seq
MIRT953816	hsa-miR-599	CLIP-seq
MIRT953817	hsa-miR-607	CLIP-seq
MIRT953818	hsa-miR-612	CLIP-seq
MIRT953819	hsa-miR-619	CLIP-seq
MIRT953820	hsa-miR-649	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953823	hsa-miR-770-5p	CLIP-seq
MIRT953824	hsa-miR-93	CLIP-seq
MIRT953825	hsa-miR-940	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953828	hsa-miR-1273f	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953830	hsa-miR-1289	CLIP-seq
MIRT953831	hsa-miR-129-5p	CLIP-seq
MIRT953832	hsa-miR-1304	CLIP-seq
MIRT953833	hsa-miR-143	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT953767	hsa-miR-3194-3p	CLIP-seq
MIRT953834	hsa-miR-3198	CLIP-seq
MIRT953775	hsa-miR-3614-5p	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953836	hsa-miR-3675-3p	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953782	hsa-miR-3938	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT953837	hsa-miR-4282	CLIP-seq
MIRT953785	hsa-miR-4294	CLIP-seq
MIRT953838	hsa-miR-4309	CLIP-seq
MIRT953839	hsa-miR-431	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953798	hsa-miR-4649-3p	CLIP-seq
MIRT953842	hsa-miR-4708-5p	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953843	hsa-miR-4770	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953810	hsa-miR-490-3p	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953819	hsa-miR-619	CLIP-seq
MIRT953820	hsa-miR-649	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953845	hsa-miR-924	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT1982369	hsa-miR-103a	CLIP-seq
MIRT1982370	hsa-miR-107	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953741	hsa-miR-1207-3p	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953745	hsa-miR-1285	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953748	hsa-miR-1301	CLIP-seq
MIRT953832	hsa-miR-1304	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953758	hsa-miR-2467-5p	CLIP-seq
MIRT953763	hsa-miR-3135b	CLIP-seq
MIRT953764	hsa-miR-3187-5p	CLIP-seq
MIRT953765	hsa-miR-3188	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT1982373	hsa-miR-329	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT1982374	hsa-miR-362-3p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT1982375	hsa-miR-3661	CLIP-seq
MIRT1982376	hsa-miR-3670	CLIP-seq
MIRT1982377	hsa-miR-3672	CLIP-seq
MIRT1982378	hsa-miR-3914	CLIP-seq
MIRT953781	hsa-miR-3929	CLIP-seq
MIRT1982379	hsa-miR-3941	CLIP-seq
MIRT1982380	hsa-miR-3974	CLIP-seq
MIRT953783	hsa-miR-3975	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953839	hsa-miR-431	CLIP-seq
MIRT953787	hsa-miR-4419b	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953789	hsa-miR-4433	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953793	hsa-miR-4478	CLIP-seq
MIRT953796	hsa-miR-4505	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953799	hsa-miR-4660	CLIP-seq
MIRT1982383	hsa-miR-4667-5p	CLIP-seq
MIRT1982384	hsa-miR-4700-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982387	hsa-miR-4789-5p	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT1982389	hsa-miR-4802-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT1982390	hsa-miR-490-5p	CLIP-seq
MIRT953811	hsa-miR-5047	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT1982393	hsa-miR-603	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953818	hsa-miR-612	CLIP-seq
MIRT1982394	hsa-miR-631	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953751	hsa-miR-1827	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953791	hsa-miR-4459	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT953803	hsa-miR-4722-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953825	hsa-miR-940	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT953742	hsa-miR-1225-3p	CLIP-seq
MIRT953743	hsa-miR-1233	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953757	hsa-miR-24	CLIP-seq
MIRT953776	hsa-miR-3616-5p	CLIP-seq
MIRT953777	hsa-miR-3647-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT953778	hsa-miR-3689a-3p	CLIP-seq
MIRT953779	hsa-miR-3689c	CLIP-seq
MIRT953784	hsa-miR-4284	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953804	hsa-miR-4728-5p	CLIP-seq
MIRT953806	hsa-miR-4772-3p	CLIP-seq
MIRT953807	hsa-miR-4795-5p	CLIP-seq
MIRT953814	hsa-miR-573	CLIP-seq
MIRT953844	hsa-miR-610	CLIP-seq
MIRT953822	hsa-miR-665	CLIP-seq
MIRT2521250	hsa-miR-10a	CLIP-seq
MIRT2521251	hsa-miR-10b	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT2521252	hsa-miR-1227	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT2521253	hsa-miR-339-5p	CLIP-seq
MIRT953773	hsa-miR-3612	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT2521254	hsa-miR-3667-5p	CLIP-seq
MIRT2521255	hsa-miR-371-3p	CLIP-seq
MIRT2521256	hsa-miR-371b-3p	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT2521257	hsa-miR-4421	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953790	hsa-miR-4443	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT2521258	hsa-miR-4715-3p	CLIP-seq
MIRT2521259	hsa-miR-4725-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT2521260	hsa-miR-4797-5p	CLIP-seq
MIRT953809	hsa-miR-485-5p	CLIP-seq
MIRT2521261	hsa-miR-495	CLIP-seq
MIRT2521262	hsa-miR-504	CLIP-seq
MIRT2521263	hsa-miR-508-5p	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT2521264	hsa-miR-515-3p	CLIP-seq
MIRT2521265	hsa-miR-519e	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT2521266	hsa-miR-593	CLIP-seq
MIRT953821	hsa-miR-650	CLIP-seq
MIRT2521267	hsa-miR-766	CLIP-seq
MIRT2521250	hsa-miR-10a	CLIP-seq
MIRT2521251	hsa-miR-10b	CLIP-seq
MIRT953826	hsa-miR-1193	CLIP-seq
MIRT953827	hsa-miR-122	CLIP-seq
MIRT2521252	hsa-miR-1227	CLIP-seq
MIRT1982371	hsa-miR-1228	CLIP-seq
MIRT953829	hsa-miR-1287	CLIP-seq
MIRT953747	hsa-miR-1297	CLIP-seq
MIRT953759	hsa-miR-26a	CLIP-seq
MIRT953760	hsa-miR-26b	CLIP-seq
MIRT1982372	hsa-miR-3199	CLIP-seq
MIRT2521253	hsa-miR-339-5p	CLIP-seq
MIRT953835	hsa-miR-3652	CLIP-seq
MIRT2521254	hsa-miR-3667-5p	CLIP-seq
MIRT2521255	hsa-miR-371-3p	CLIP-seq
MIRT2521256	hsa-miR-371b-3p	CLIP-seq
MIRT1982381	hsa-miR-4269	CLIP-seq
MIRT2521257	hsa-miR-4421	CLIP-seq
MIRT953840	hsa-miR-4430	CLIP-seq
MIRT1982382	hsa-miR-4438	CLIP-seq
MIRT953792	hsa-miR-4465	CLIP-seq
MIRT953841	hsa-miR-4534	CLIP-seq
MIRT953800	hsa-miR-4685-5p	CLIP-seq
MIRT2521258	hsa-miR-4715-3p	CLIP-seq
MIRT2521259	hsa-miR-4725-5p	CLIP-seq
MIRT1982385	hsa-miR-4735-5p	CLIP-seq
MIRT1982386	hsa-miR-4775	CLIP-seq
MIRT1982388	hsa-miR-4794	CLIP-seq
MIRT2521260	hsa-miR-4797-5p	CLIP-seq
MIRT2521262	hsa-miR-504	CLIP-seq
MIRT2521263	hsa-miR-508-5p	CLIP-seq
MIRT1982391	hsa-miR-5095	CLIP-seq
MIRT2521264	hsa-miR-515-3p	CLIP-seq
MIRT2521265	hsa-miR-519e	CLIP-seq
MIRT1982392	hsa-miR-590-3p	CLIP-seq
MIRT2521266	hsa-miR-593	CLIP-seq
MIRT2521267	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IMP	28370826
GO:0000922	Component	Spindle pole	IDA	28370826
GO:0000922	Component	Spindle pole	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25820252, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	22926142
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	IEA
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	ISS
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	IMP	19734894, 28370826
GO:0021795	Process	Cerebral cortex cell migration	IMP	22926142
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0043014	Function	Alpha-tubulin binding	IDA	19734894
GO:0043025	Component	Neuronal cell body	ISS
GO:0051302	Process	Regulation of cell division	IMP	19734894
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA	19734894, 22926142
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

Other IDs

• MIM: 608815
• HGNC: 16406
• e!Ensembl: ENSG00000096093

Protein

• UniProt ID: Q5JVL4
• Protein name: EF-hand domain-containing protein 1 (Myoclonin-1)
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Microtubule-associated protein which regulates cell division and neuronal mi
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06565	DUF1126	86 → 190	DUF1126 PH-like domain	Domain
  PF06565	DUF1126	232 → 351	DUF1126 PH-like domain	Domain
  PF06565	DUF1126	409 → 512	DUF1126 PH-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Not detected in lymphocytes. {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:36191189}.
• Sequence:

  MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA
  ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV
  NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT
  FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK
  QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV
  LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG
  ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL
  RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD
  NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA
  PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
  KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN

• Sequence length: 640

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Absence seizure	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor	rs201520866, rs1764251712, rs1764252445, rs759050400, rs1481620865, rs571448222, rs144739917, rs535905126, rs771316611, rs73740379, rs1303813611, rs1286302392, rs145102896, rs995402027, rs1430629936, rs747450415, rs1765273374, rs1562462191, rs752066434, rs772265107, rs373267174, rs758464930, rs748229072, rs764096785, rs745600475, rs560584332, rs750912328, rs1164027334, rs144389178, rs369468811, rs763313820, rs1433410236, rs1581847690, rs2114039449, rs1029149593, rs2113979351, rs1374718335, rs1249877509, rs373638109, rs1266698847, rs751569889, rs372831217, rs767652099, rs1405675667, rs377349630, rs765401978, rs1764987965, rs932580766, rs999038193, rs1252426853, rs775581363, rs2114037054, rs534406651, rs774056218, rs148936911, rs751733899, rs368238981, rs570700601, rs2114024594, rs371542229, rs2113979621, rs1764987409, rs144447906, rs754355317, rs2114024468, rs1422352360, rs1765869162, rs142210037, rs190021570, rs115913738, rs116134831, rs1266787, rs200116252, rs369503191, rs372507832, rs17851770, rs149315015, rs3804506, rs9349626, rs1570624, rs140429638, rs558446131, rs2114023582, rs1331948538, rs115205076, rs201860746, rs145367062, rs505760, rs377227885, rs35648306, rs533695444, rs1181131881, rs2113966975, rs1199507059, rs3804505, rs137852776, rs137852777, rs149055334, rs137852779, rs137852780, rs1286538717, rs145194882, rs201263733, rs377286138, rs200510672, rs779993809, rs200435907, rs374402088, rs374661645, rs543160745, rs371610025, rs769591944, rs781665913, rs139197513, rs140476054, rs145754721, rs796052413, rs369926953, rs142107827, rs527295360, rs377732929, rs371151471, rs566874147, rs201261630, rs372520849, rs773385237, rs142458862, rs574948354, rs1433886694, rs77682973, rs756563341, rs766444850, rs753549012, rs115475262, rs886061629, rs372240827, rs750259384, rs770182350, rs1057521631, rs774640110, rs546464826, rs79761183, rs200191497, rs754483740, rs759944784, rs775980459, rs773598517, rs373196171, rs775583843, rs1060504898, rs1060503381, rs752701116, rs1339961633, rs1554257650, rs191404037, rs1163603161, rs1045298708, rs1554262324, rs747171841, rs1554258778, rs143254681, rs112800954, rs200024100, rs1554261597, rs750083920, rs1554262183, rs369201702, rs928396576, rs1562447137, rs1562453330, rs373042342, rs749376467, rs1562442253, rs369777400, rs201379297, rs1562453181, rs536323609, rs766675010, rs867304706, rs201543041, rs138973203, rs1562458726, rs775530837, rs146467751, rs147882603, rs760025678, rs766220714, rs1451023675, rs368992606, rs767704811, rs377165334, rs375014511, rs765821468, rs17851771, rs1218368055, rs529767823, rs753032457, rs973650043, rs779990464, rs1581854254, rs1581854375, rs149627167, rs772096798, rs200328198, rs200375854, rs777238548, rs773438652, rs137869409, rs772874099, rs1562466034, rs1222704866, rs1396508732, rs370815762, rs553105915, rs543750772, rs1765873500, rs1764162488, rs375322518, rs988250483, rs557599173, rs1764580689, rs201616140, rs191656603, rs373625101, rs780571007, rs1172185919, rs1284999394, rs144708524, rs201118016, rs573582894, rs777659552, rs796052418, rs776277918, rs770847993, rs1765610593, rs1765610823, rs201129694, rs186911667, rs759767484, rs765750690, rs754567679, rs768684304, rs199604518, rs772150303, rs1764941998, rs1359654256, rs779882152, rs773810917, rs761440315, rs757990962, rs1764582038, rs1277516532, rs759793242, rs1765870228, rs776734177, rs1452409120, rs775601315, rs763151746, rs757440981, rs375851193, rs199814370, rs769745156, rs1765271296, rs1765271672, rs1765386430, rs1765633745	RCV002499599 RCV003770649 RCV003770678 RCV003770774 RCV003770706 RCV003770688 RCV003770789 RCV003770653 RCV003770787 RCV003764768 RCV001335886 RCV003770872 RCV003771001 RCV003770888 RCV003770898 RCV003770969 RCV003770883 RCV003771011 RCV003770963 RCV003771007 RCV003770953 RCV003771026 RCV002488101 RCV003771079 RCV003771193 RCV005208736 RCV003771197 RCV003771071 RCV003771158 RCV003771058 RCV003771096 RCV003771107 RCV003771050 RCV003771124 RCV003771286 RCV003771330 RCV003771303 RCV003771316 RCV003771288 RCV003771319 RCV003771310 RCV003771284 RCV003771318 RCV003771364 RCV003771414 RCV003771343 RCV003771405 RCV003771384 RCV003771400 RCV003771388 RCV003771373 RCV003771342 RCV003771468 RCV003771434 RCV003771440 RCV003771426 RCV003771474 RCV003771457 RCV003771463 RCV003771487 RCV003771516 RCV003771520 RCV003771514 RCV003771535 RCV003771528 RCV003771533 RCV003771532 RCV003771569 RCV003771561 RCV003764812 RCV003764813 RCV003764814 RCV000515423 RCV003764816 RCV003764817 RCV003764818 RCV003764819 RCV003764820 RCV003764821 RCV003764822 RCV003764823 RCV003772800 RCV003772853 RCV003772916 RCV003764855 RCV003764856 RCV003764857 RCV003764858 RCV003764859 RCV002498599 RCV003773158 RCV003773170 RCV003773250 RCV003774048 RCV003764515 RCV001838977 RCV005208698 RCV002503740 RCV000002149 RCV000002150 RCV003777556 RCV003765084 RCV003765095 RCV003765101 RCV003765104 RCV003765189 RCV003765178 RCV001589056 RCV003765180 RCV000472645 RCV003765190 RCV003765169 RCV003765167 RCV003765170 RCV003765171 RCV003765173 RCV003765174 RCV003765175 RCV003765176 RCV000764651 RCV001836748 RCV003765182 RCV000226361 RCV003765185 RCV003765184 RCV003765186 RCV003765187 RCV003765168 RCV003765188 RCV000764652 RCV003777009 RCV003765218 RCV003765615 RCV003765636 RCV003765644 RCV003765650 RCV003766056 RCV003766055 RCV003766057 RCV003766058 RCV003147458 RCV003766199 RCV003766198 RCV003765172 RCV003766473 RCV003766606 RCV003766605 RCV002481468 RCV003766609 RCV003766604 RCV003766610 RCV003766651 RCV003766607 RCV003766608 RCV005208923 RCV003767006 RCV003767002 RCV003767001 RCV003767003 RCV003767004 RCV003767005 RCV003767856 RCV003767858 RCV003767857 RCV003767860 RCV003767859 RCV003767855 RCV003767854 RCV003767853 RCV000703872 RCV003768084 RCV003768070 RCV003768078 RCV002493238 RCV003768082 RCV003768052 RCV003768053 RCV003768074 RCV003768057 RCV003768063 RCV003768059 RCV000694200 RCV003768088 RCV003768068 RCV003768504 RCV003768498 RCV003768537 RCV003768516 RCV003768486 RCV003768543 RCV003768524 RCV000800502 RCV003768532 RCV003768488 RCV003768517 RCV003768539 RCV003768545 RCV003768534 RCV003768487 RCV003768495 RCV003768514 RCV003768531 RCV003768506 RCV003768501 RCV003768654 RCV003768665 RCV003768652 RCV003768671 RCV003769265 RCV005208772 RCV003768767 RCV005208777 RCV005208881 RCV005208793 RCV003768914 RCV005208813 RCV003768931 RCV003768933 RCV003768934 RCV003768932 RCV003768953 RCV003768970 RCV003768939 RCV003768948 RCV003768966 RCV003768965 RCV003768981 RCV003768956 RCV003768942 RCV003768935 RCV003768955 RCV003768946 RCV003768945 RCV001329046 RCV003768982 RCV003768967 RCV003768940 RCV003768984 RCV003768968 RCV003768973 RCV002489637 RCV002481992 RCV003768944 RCV003768976 RCV003768962 RCV003768949 RCV003770252 RCV003770259 RCV003770244 RCV003770243 RCV003770238 RCV003770236 RCV003770250 RCV003770248 RCV003770251 RCV003770265 RCV003770263 RCV003770264 RCV003770266 RCV003770267 RCV003770285 RCV003770279 RCV003770282 RCV003770281 RCV003770584 RCV003770480 RCV003770592 RCV003770540 RCV003770573 RCV003770561 RCV003770511 RCV003770486 RCV003770600 RCV003770609
EFHC1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs73740379, rs149315015, rs149055334, rs145194882, rs3804506, rs139197513, rs145754721, rs377732929, rs142458862, rs115475262, rs886061629, rs2532626998, rs79761183	RCV003915095 RCV003935113 RCV003891754 RCV003955018 RCV003927641 RCV003947569 RCV003907654 RCV003977495 RCV003927737 RCV003910000 RCV004758005 RCV003929837 RCV003891753
Epilepsy, idiopathic generalized, susceptibility to, 7	Conflicting classifications of pathogenicity	rs140476054	RCV001808465
Epilepsy, juvenile absence, susceptibility to, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs371151471, rs780571007	RCV003224206 RCV005394665
Familial cancer of breast	Conflicting classifications of pathogenicity	rs142458862	RCV005892172
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	rs142458862, rs9474228	RCV005892174 RCV005899122
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs9349626, rs142458862	RCV005888073 RCV005892173
Juvenile myoclonic epilepsy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance; association	rs73740379, rs1266787, rs200116252, rs369503191, rs17851770, rs149315015, rs3804506, rs9349626, rs1570624, rs140429638, rs115205076, rs201860746, rs377227885, rs3804505, rs750899949, rs374661645, rs145754721, rs369926953, rs142107827, rs371151471, rs369468811, rs201261630, rs773385237, rs149998588, rs201197637, rs574948354, rs886061629, rs201946033, rs151292895, rs7757370, rs562067977, rs59794069, rs4455668, rs35994917, rs201262358, rs148070071, rs59722297, rs886061639, rs6919266, rs2296196, rs41273738, rs372240827, rs78906153, rs538486876, rs540732861, rs112311115, rs886061633, rs886061636, rs2397092, rs753392817, rs9474228, rs796720054, rs148615781, rs886061628, rs886061630, rs750259384, rs9463792, rs886061631, rs560182875, rs6926242, rs886061627, rs770182350, rs574373324, rs78956562, rs886061634, rs58779695, rs9367485, rs3789772, rs761411516, rs372975445, rs547537212, rs886061638, rs749445189, rs3789771, rs928396576, rs201543041, rs767704811, rs1581829739, rs1581846971, rs1765607722	RCV000264256 RCV000385399 RCV000515423 RCV000403217 RCV000302395 RCV000576377 RCV000272870 RCV000359153 RCV000576679 RCV000406057 RCV000316045 RCV000352498 RCV000287759 RCV000576851 RCV000311632 RCV000472645 RCV000378920 RCV000509213 RCV000764651 RCV000226361 RCV000295753 RCV000350728 RCV000393652 RCV000679897 RCV000347358 RCV000764652 RCV000260926 RCV000375353 RCV000298650 RCV000353494 RCV000318646 RCV000312886 RCV000329068 RCV000383689 RCV000334800 RCV000375429 RCV000349927 RCV000404531 RCV000303058 RCV000282437 RCV000337448 RCV000308002 RCV000263404 RCV000368975 RCV000333989 RCV000290897 RCV000297797 RCV000407577 RCV000341357 RCV000357303 RCV000332730 RCV000283139 RCV000324166 RCV000408378 RCV000314480 RCV000392485 RCV000309023 RCV000324087 RCV000280436 RCV000349416 RCV000274285 RCV000388516 RCV000289719 RCV000385142 RCV000286357 RCV000277748 RCV000363894 RCV000362801 RCV000361650 RCV000405204 RCV000326025 RCV000269281 RCV000279568 RCV000306638 RCV000365942 RCV000340134 RCV000403318 RCV000378696 RCV000280929 RCV000350681 RCV000271294 RCV000703872 RCV000694200 RCV000800502 RCV001030013 RCV001030015 RCV001052733
Lung cancer	Uncertain significance	rs191404037	RCV005896792
Lymphoma	Uncertain significance	rs759767484	RCV005913587
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs9349626	RCV005888074
Malignant tumor of esophagus	Uncertain significance	rs780571007	RCV005912445
Myoclonic epilepsy, juvenile, susceptibility to, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor; no classifications from unflagged records	rs201520866, rs1764249661, rs1764251712, rs1764252445, rs759050400, rs1481620865, rs571448222, rs144739917, rs535905126, rs771316611, rs73740379, rs1303813611, rs1286302392, rs145102896, rs995402027, rs1430629936, rs267601073, rs747450415, rs137852778, rs757987501, rs1765273374, rs1562462191, rs752066434, rs772265107, rs1765867667, rs373267174, rs758464930, rs748229072, rs1764254615, rs1351442830, rs764096785, rs745600475, rs560584332, rs750912328, rs1164027334, rs1231287887, rs144389178, rs369468811, rs763313820, rs1433410236, rs1581847690, rs2114039449, rs1029149593, rs2113979351, rs1374718335, rs1249877509, rs373638109, rs1266698847, rs751569889, rs372831217, rs767652099, rs746911392, rs1405675667, rs377349630, rs765401978, rs1764987965, rs764297951, rs932580766, rs999038193, rs1252426853, rs775581363, rs2114037054, rs534406651, rs774056218, rs148936911, rs751733899, rs777292013, rs368238981, rs570700601, rs2114024594, rs371542229, rs2113979621, rs1764987409, rs144447906, rs754355317, rs1765388049, rs2114024468, rs1422352360, rs1765869162, rs142210037, rs190021570, rs775530837, rs115913738, rs116134831, rs1266787, rs200116252, rs369503191, rs372507832, rs17851770, rs149315015, rs3804506, rs9349626, rs1570624, rs140429638, rs558446131, rs2114023582, rs1331948538, rs766874585, rs115205076, rs201860746, rs145367062, rs505760, rs377227885, rs35648306, rs533695444, rs1181131881, rs2113966975, rs1199507059, rs770971528, rs3804505, rs137852776, rs137852777, rs149055334, rs137852781, rs1286538717, rs145194882, rs201263733, rs377286138, rs200510672, rs779993809, rs200435907, rs374402088, rs374661645, rs543160745, rs371610025, rs769591944, rs781665913, rs139197513, rs140476054, rs145754721, rs796052413, rs369926953, rs142107827, rs527295360, rs377732929, rs371151471, rs566874147, rs201261630, rs372520849, rs773385237, rs142458862, rs1433886694, rs77682973, rs796052414, rs756563341, rs766444850, rs753549012, rs115475262, rs886061629, rs372240827, rs148615781, rs750259384, rs770182350, rs774640110, rs546464826, rs79761183, rs200191497, rs754483740, rs759944784, rs775980459, rs773598517, rs373196171, rs775583843, rs1060504898, rs1060503381, rs752701116, rs1339961633, rs1554257650, rs191404037, rs1163603161, rs1045298708, rs1554262324, rs747171841, rs1554258778, rs143254681, rs112800954, rs200024100, rs1554261597, rs546262142, rs1554261668, rs750083920, rs1554259746, rs1554262183, rs369201702, rs1562447137, rs1562453330, rs373042342, rs749376467, rs1562442253, rs369777400, rs201379297, rs1562453181, rs536323609, rs766675010, rs867304706, rs201543041, rs138973203, rs1562458726, rs146467751, rs147882603, rs760025678, rs766220714, rs1451023675, rs368992606, rs377165334, rs375014511, rs765821468, rs17851771, rs1218368055, rs529767823, rs753032457, rs973650043, rs779990464, rs1581854254, rs1581854375, rs149627167, rs772096798, rs200328198, rs200375854, rs777238548, rs773438652, rs137869409, rs772874099, rs1562466034, rs1222704866, rs1396508732, rs370815762, rs553105915, rs543750772, rs1765873500, rs1764162488, rs375322518, rs988250483, rs557599173, rs1764580689, rs201616140, rs191656603, rs373625101, rs1764588785, rs780571007, rs1172185919, rs1284999394, rs144708524, rs201118016, rs573582894, rs777659552, rs796052418, rs776277918, rs770847993, rs1765610593, rs1765610823, rs201129694, rs186911667, rs759767484, rs765750690, rs754567679, rs768684304, rs199604518, rs772150303, rs11552772, rs1764941998, rs1359654256, rs779882152, rs773810917, rs761440315, rs757990962, rs1764582038, rs1277516532, rs759793242, rs752642262, rs1765870228, rs776734177, rs1452409120, rs775601315, rs763151746, rs757440981, rs375851193, rs143655397, rs758695181, rs199814370, rs769745156, rs1765271296, rs1765271672, rs1765386430, rs1765630267, rs1765633745	RCV002499599 RCV002241924 RCV003770649 RCV003770678 RCV003770774 RCV003770706 RCV003770688 RCV003770789 RCV003770653 RCV003770787 RCV003764768 RCV003770862 RCV003770872 RCV003771001 RCV003770888 RCV003770898 RCV002242329 RCV003770969 RCV002242467 RCV002242676 RCV003770883 RCV003771011 RCV003770963 RCV003771007 RCV002242407 RCV003770953 RCV003771026 RCV002488101 RCV002242650 RCV002242697 RCV003771079 RCV003771193 RCV005208736 RCV003771197 RCV003771071 RCV002242645 RCV003771158 RCV003771058 RCV003771096 RCV003771107 RCV003771050 RCV003771124 RCV003771286 RCV003771330 RCV003771303 RCV003771316 RCV003771288 RCV003771319 RCV003771310 RCV003771284 RCV003771318 RCV002243103 RCV003771364 RCV003771414 RCV003771343 RCV003771405 RCV002236020 RCV003771384 RCV003771400 RCV003771388 RCV003771373 RCV003771342 RCV003771468 RCV003771434 RCV003771440 RCV003771426 RCV002240602 RCV003771474 RCV003771457 RCV003771463 RCV003771487 RCV003771516 RCV003771520 RCV003771514 RCV003771535 RCV002241044 RCV003771528 RCV003771533 RCV003771532 RCV003771569 RCV003771561 RCV001784161 RCV003764812 RCV003764813 RCV003764814 RCV003764815 RCV003764816 RCV003764817 RCV003764818 RCV003764819 RCV003764820 RCV003764821 RCV003764822 RCV003764823 RCV003772800 RCV003772853 RCV003772916 RCV001944532 RCV003764855 RCV003764856 RCV003764857 RCV003764858 RCV003764859 RCV002498599 RCV003773158 RCV003773170 RCV003773250 RCV003774048 RCV002290046 RCV000002144 RCV000002145 RCV000002146 RCV000002147 RCV002503740 RCV000002151 RCV003777556 RCV003765084 RCV003765095 RCV003765101 RCV003765104 RCV003765189 RCV003765178 RCV003765179 RCV003765180 RCV003765181 RCV003765190 RCV003765169 RCV003765167 RCV003765170 RCV003765171 RCV003765173 RCV003765174 RCV003765175 RCV003765176 RCV003765177 RCV001836748 RCV003765182 RCV003224206 RCV003765185 RCV003765184 RCV003765186 RCV003765187 RCV003765168 RCV003765188 RCV003777009 RCV003765218 RCV000195077 RCV003765615 RCV003765636 RCV003765644 RCV003765650 RCV003766056 RCV003766055 RCV002229977 RCV003766057 RCV003766058 RCV003766199 RCV003766198 RCV003765172 RCV003766473 RCV003766606 RCV003766605 RCV002481468 RCV003766609 RCV003766604 RCV003766610 RCV003766651 RCV003766607 RCV003766608 RCV005208923 RCV003767006 RCV003767002 RCV003767001 RCV003767003 RCV003767004 RCV003767005 RCV003767856 RCV003767858 RCV003767857 RCV003767860 RCV003767859 RCV002234529 RCV002530000 RCV003767855 RCV002544665 RCV003767854 RCV003767853 RCV003768084 RCV003768070 RCV003768078 RCV002493238 RCV003768082 RCV003768052 RCV003768053 RCV003768074 RCV003768057 RCV003768063 RCV003768059 RCV003768064 RCV003768088 RCV003768068 RCV003768504 RCV003768498 RCV003768537 RCV003768516 RCV003768486 RCV003768543 RCV003768524 RCV002235331 RCV003768532 RCV003768488 RCV003768517 RCV003768539 RCV003768545 RCV003768534 RCV003768487 RCV003768495 RCV003768514 RCV003768531 RCV003768506 RCV003768501 RCV003768654 RCV003768665 RCV003768652 RCV003768671 RCV003769265 RCV005208772 RCV003768767 RCV005208777 RCV005208881 RCV005208793 RCV003768914 RCV005208813 RCV003768931 RCV003768933 RCV003768934 RCV003768932 RCV003768953 RCV003768970 RCV003768939 RCV003768948 RCV003768966 RCV003768965 RCV003768981 RCV003768956 RCV002240253 RCV003768942 RCV003768935 RCV003768955 RCV003768946 RCV003768945 RCV003768952 RCV003768982 RCV003768967 RCV003768940 RCV003768984 RCV003768968 RCV003768973 RCV002489637 RCV002481992 RCV003768944 RCV003768976 RCV003768962 RCV003768949 RCV003770252 RCV003770259 RCV003770244 RCV003770243 RCV002241097 RCV003770238 RCV003770236 RCV003770250 RCV003770248 RCV003770251 RCV003770265 RCV003770263 RCV003770264 RCV003770266 RCV002241428 RCV003770267 RCV003770285 RCV003770279 RCV003770282 RCV003770281 RCV003770584 RCV003770480 RCV002242055 RCV003153971 RCV003770592 RCV003770540 RCV003770573 RCV003770561 RCV003770511 RCV003770486 RCV002241898 RCV003770600 RCV003770609
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs547999372, rs372975445	RCV005915249 RCV005899121
Seizure	Conflicting classifications of pathogenicity	rs527295360	RCV001808466
Typical absence seizure	Uncertain significance; Likely benign	rs1764249661, rs267601073, rs137852778, rs757987501, rs1765867667, rs1764254615, rs1351442830, rs1231287887, rs746911392, rs764297951, rs777292013, rs1765388049, rs766874585, rs148615781, rs546262142, rs1554261668, rs1554259746, rs201379297, rs1764588785, rs1765607722, rs11552772, rs752642262, rs143655397, rs758695181, rs1765630267	RCV002241924 RCV002242329 RCV002242467 RCV002242676 RCV002242407 RCV002242650 RCV002242697 RCV002242645 RCV002243103 RCV002236020 RCV002240602 RCV002241044 RCV001944532 RCV002229977 RCV002234529 RCV002530000 RCV002544665 RCV002235331 RCV002240253 RCV001052733 RCV002241097 RCV002241428 RCV002242055 RCV003153971 RCV002241898
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Likely benign	rs372507832, rs369201702	RCV005888072 RCV005900212

Associations from Text Mining
Disease Name	Relationship Type	References
Drug Resistant Epilepsy	Associate	22690745
Epilepsy	Associate	22690745, 28074849, 31056551
Epilepsy Idiopathic Generalized	Associate	12830434, 36842888, 8352275
Myoclonic Epilepsy Juvenile	Associate	12830434, 16414227, 17634063, 18823326, 22690745, 22727576, 25489633, 33969125, 36842888, 38088014, 8352275