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STAG2 (STAG2 cohesin complex component)

Gene

10735

STAG2 cohesin complex component

STAG2

HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B, bA517O1.1

Xq25

The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that geneti

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1374370833	A>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1569507848	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1569510978	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569511477	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1569512722	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569515507	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1569515729	AGA>T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569515797	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569516580	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569520709	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602977573	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1603150613	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(464)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020913	hsa-miR-155-5p	Proteomics	18668040
MIRT025332	hsa-miR-34a-5p	Proteomics	21566225
MIRT025332	hsa-miR-34a-5p	Proteomics	21566225
MIRT031017	hsa-miR-21-5p	Sequencing	20371350
MIRT047306	hsa-miR-181a-5p	CLASH	23622248
MIRT047306	hsa-miR-181a-5p	CLASH	23622248
MIRT047201	hsa-miR-182-5p	CLASH	23622248
MIRT045116	hsa-miR-186-5p	CLASH	23622248
MIRT041363	hsa-miR-193b-3p	CLASH	23622248
MIRT666073	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT666071	hsa-miR-3651	HITS-CLIP	23824327
MIRT666072	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT666070	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT666069	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666068	hsa-miR-8081	HITS-CLIP	23824327
MIRT439530	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439530	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT731050	hsa-miR-409-3p	Luciferase reporter assay	25065597
MIRT731050	hsa-miR-409-3p	Luciferase reporter assay	25065597
MIRT666073	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT666071	hsa-miR-3651	HITS-CLIP	23824327
MIRT666072	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT666070	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT666069	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666068	hsa-miR-8081	HITS-CLIP	23824327
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394405	hsa-miR-21	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394408	hsa-miR-3137	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT1394419	hsa-miR-590-5p	CLIP-seq
MIRT1394420	hsa-miR-1208	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394424	hsa-miR-155	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT1394429	hsa-miR-3168	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT1394437	hsa-miR-4277	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT1394439	hsa-miR-4282	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT1394454	hsa-miR-548c-3p	CLIP-seq
MIRT1394455	hsa-miR-569	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394457	hsa-miR-1243	CLIP-seq
MIRT1394458	hsa-miR-1252	CLIP-seq
MIRT1394459	hsa-miR-1256	CLIP-seq
MIRT1394460	hsa-miR-1270	CLIP-seq
MIRT1394461	hsa-miR-1290	CLIP-seq
MIRT1394462	hsa-miR-1323	CLIP-seq
MIRT1394424	hsa-miR-155	CLIP-seq
MIRT1394463	hsa-miR-1910	CLIP-seq
MIRT1394464	hsa-miR-1913	CLIP-seq
MIRT1394405	hsa-miR-21	CLIP-seq
MIRT1394465	hsa-miR-214	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT1394466	hsa-miR-2355-3p	CLIP-seq
MIRT1394467	hsa-miR-29a	CLIP-seq
MIRT1394468	hsa-miR-29b	CLIP-seq
MIRT1394469	hsa-miR-29c	CLIP-seq
MIRT1394470	hsa-miR-3065-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394471	hsa-miR-3125	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT1394408	hsa-miR-3137	CLIP-seq
MIRT1394472	hsa-miR-3145-3p	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394474	hsa-miR-3167	CLIP-seq
MIRT1394429	hsa-miR-3168	CLIP-seq
MIRT1394475	hsa-miR-3183	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT1394476	hsa-miR-3202	CLIP-seq
MIRT1394477	hsa-miR-324-3p	CLIP-seq
MIRT1394478	hsa-miR-338-5p	CLIP-seq
MIRT1394479	hsa-miR-340	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT1394480	hsa-miR-3619-5p	CLIP-seq
MIRT1394481	hsa-miR-3650	CLIP-seq
MIRT1394482	hsa-miR-3654	CLIP-seq
MIRT1394483	hsa-miR-3909	CLIP-seq
MIRT1394484	hsa-miR-3916	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT1394485	hsa-miR-3976	CLIP-seq
MIRT1394486	hsa-miR-4263	CLIP-seq
MIRT1394487	hsa-miR-4269	CLIP-seq
MIRT1394437	hsa-miR-4277	CLIP-seq
MIRT1394488	hsa-miR-4291	CLIP-seq
MIRT1394489	hsa-miR-432	CLIP-seq
MIRT1394490	hsa-miR-4327	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394491	hsa-miR-4464	CLIP-seq
MIRT1394492	hsa-miR-4470	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394493	hsa-miR-4503	CLIP-seq
MIRT1394494	hsa-miR-4514	CLIP-seq
MIRT1394495	hsa-miR-4531	CLIP-seq
MIRT1394496	hsa-miR-4533	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT1394497	hsa-miR-4668-3p	CLIP-seq
MIRT1394498	hsa-miR-4692	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394499	hsa-miR-4723-3p	CLIP-seq
MIRT1394500	hsa-miR-4742-5p	CLIP-seq
MIRT1394501	hsa-miR-4748	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394503	hsa-miR-4797-5p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394504	hsa-miR-490-3p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT1394505	hsa-miR-518a-5p	CLIP-seq
MIRT1394506	hsa-miR-527	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394507	hsa-miR-548ac	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394508	hsa-miR-548d-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394509	hsa-miR-548l	CLIP-seq
MIRT1394510	hsa-miR-548n	CLIP-seq
MIRT1394511	hsa-miR-548o	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT1394512	hsa-miR-548z	CLIP-seq
MIRT1394455	hsa-miR-569	CLIP-seq
MIRT1394513	hsa-miR-576-5p	CLIP-seq
MIRT1394419	hsa-miR-590-5p	CLIP-seq
MIRT1394514	hsa-miR-620	CLIP-seq
MIRT1394515	hsa-miR-649	CLIP-seq
MIRT1394516	hsa-miR-676	CLIP-seq
MIRT1394517	hsa-miR-761	CLIP-seq
MIRT1394518	hsa-miR-876-5p	CLIP-seq
MIRT1394519	hsa-miR-922	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT2118385	hsa-miR-3143	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394478	hsa-miR-338-5p	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394439	hsa-miR-4282	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT2118387	hsa-miR-4762-3p	CLIP-seq
MIRT2118388	hsa-miR-4766-5p	CLIP-seq
MIRT1394453	hsa-miR-513a-3p	CLIP-seq
MIRT2118389	hsa-miR-543	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394404	hsa-miR-1183	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT1394457	hsa-miR-1243	CLIP-seq
MIRT1394458	hsa-miR-1252	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT2340487	hsa-miR-1299	CLIP-seq
MIRT1394462	hsa-miR-1323	CLIP-seq
MIRT1394423	hsa-miR-140-3p	CLIP-seq
MIRT1394464	hsa-miR-1913	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2340488	hsa-miR-2467-3p	CLIP-seq
MIRT2340489	hsa-miR-30a	CLIP-seq
MIRT2340490	hsa-miR-30b	CLIP-seq
MIRT2340491	hsa-miR-30c	CLIP-seq
MIRT2340492	hsa-miR-30d	CLIP-seq
MIRT2340493	hsa-miR-30e	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2118385	hsa-miR-3143	CLIP-seq
MIRT1394476	hsa-miR-3202	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394477	hsa-miR-324-3p	CLIP-seq
MIRT2340495	hsa-miR-338-3p	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT1394482	hsa-miR-3654	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2340497	hsa-miR-4257	CLIP-seq
MIRT1394487	hsa-miR-4269	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT1394492	hsa-miR-4470	CLIP-seq
MIRT2340499	hsa-miR-4495	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT1394494	hsa-miR-4514	CLIP-seq
MIRT2340500	hsa-miR-4528	CLIP-seq
MIRT2340501	hsa-miR-4530	CLIP-seq
MIRT1394496	hsa-miR-4533	CLIP-seq
MIRT1394498	hsa-miR-4692	CLIP-seq
MIRT2340502	hsa-miR-4693-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT1394500	hsa-miR-4742-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2340503	hsa-miR-4764-5p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT1394504	hsa-miR-490-3p	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT2340506	hsa-miR-516b	CLIP-seq
MIRT2118389	hsa-miR-543	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394511	hsa-miR-548o	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT1394515	hsa-miR-649	CLIP-seq
MIRT1394519	hsa-miR-922	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394409	hsa-miR-4659a-3p	CLIP-seq
MIRT1394410	hsa-miR-4659b-3p	CLIP-seq
MIRT2634276	hsa-miR-1	CLIP-seq
MIRT2634277	hsa-miR-101	CLIP-seq
MIRT2634278	hsa-miR-1197	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT2634279	hsa-miR-124	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT2634280	hsa-miR-206	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2634281	hsa-miR-219-1-3p	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT2634282	hsa-miR-25	CLIP-seq
MIRT2634283	hsa-miR-296-3p	CLIP-seq
MIRT2634284	hsa-miR-2964a-5p	CLIP-seq
MIRT1394467	hsa-miR-29a	CLIP-seq
MIRT1394468	hsa-miR-29b	CLIP-seq
MIRT1394469	hsa-miR-29c	CLIP-seq
MIRT1394470	hsa-miR-3065-3p	CLIP-seq
MIRT2634285	hsa-miR-31	CLIP-seq
MIRT2634286	hsa-miR-3117-3p	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2634287	hsa-miR-3129-3p	CLIP-seq
MIRT2634288	hsa-miR-3161	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT2634289	hsa-miR-32	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394479	hsa-miR-340	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2634290	hsa-miR-3611	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT2634291	hsa-miR-3622b-5p	CLIP-seq
MIRT2634292	hsa-miR-363	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT2634293	hsa-miR-367	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2634294	hsa-miR-3673	CLIP-seq
MIRT2634295	hsa-miR-3714	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT2634296	hsa-miR-382	CLIP-seq
MIRT2634297	hsa-miR-3910	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT2634298	hsa-miR-4477a	CLIP-seq
MIRT2634299	hsa-miR-4491	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT2634300	hsa-miR-4506	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT2634301	hsa-miR-4652-3p	CLIP-seq
MIRT2634302	hsa-miR-4657	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394497	hsa-miR-4668-3p	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT2634303	hsa-miR-4699-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT2634304	hsa-miR-4735-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2634305	hsa-miR-4775	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT2634306	hsa-miR-488	CLIP-seq
MIRT2634307	hsa-miR-495	CLIP-seq
MIRT2634308	hsa-miR-506	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT2634309	hsa-miR-548a-5p	CLIP-seq
MIRT2634310	hsa-miR-548ab	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT2634311	hsa-miR-548ak	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT2634312	hsa-miR-548b-5p	CLIP-seq
MIRT2634313	hsa-miR-548c-5p	CLIP-seq
MIRT2634314	hsa-miR-548d-5p	CLIP-seq
MIRT2634315	hsa-miR-548h	CLIP-seq
MIRT2634316	hsa-miR-548i	CLIP-seq
MIRT2634317	hsa-miR-548j	CLIP-seq
MIRT1394510	hsa-miR-548n	CLIP-seq
MIRT2634318	hsa-miR-548t	CLIP-seq
MIRT2634319	hsa-miR-548w	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634320	hsa-miR-548y	CLIP-seq
MIRT2634321	hsa-miR-559	CLIP-seq
MIRT2634322	hsa-miR-562	CLIP-seq
MIRT2634323	hsa-miR-563	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2634324	hsa-miR-571	CLIP-seq
MIRT2634325	hsa-miR-578	CLIP-seq
MIRT2634326	hsa-miR-590-3p	CLIP-seq
MIRT2634327	hsa-miR-613	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT2634328	hsa-miR-643	CLIP-seq
MIRT2634329	hsa-miR-758	CLIP-seq
MIRT2634330	hsa-miR-765	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT2634331	hsa-miR-92a	CLIP-seq
MIRT2634332	hsa-miR-92b	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634276	hsa-miR-1	CLIP-seq
MIRT2634277	hsa-miR-101	CLIP-seq
MIRT2634278	hsa-miR-1197	CLIP-seq
MIRT1394421	hsa-miR-1237	CLIP-seq
MIRT2634279	hsa-miR-124	CLIP-seq
MIRT2340486	hsa-miR-1279	CLIP-seq
MIRT1394422	hsa-miR-1303	CLIP-seq
MIRT1394425	hsa-miR-2054	CLIP-seq
MIRT2634280	hsa-miR-206	CLIP-seq
MIRT1394426	hsa-miR-217	CLIP-seq
MIRT2634281	hsa-miR-219-1-3p	CLIP-seq
MIRT1394406	hsa-miR-22	CLIP-seq
MIRT2634282	hsa-miR-25	CLIP-seq
MIRT2634283	hsa-miR-296-3p	CLIP-seq
MIRT2634284	hsa-miR-2964a-5p	CLIP-seq
MIRT2634285	hsa-miR-31	CLIP-seq
MIRT2634286	hsa-miR-3117-3p	CLIP-seq
MIRT1394427	hsa-miR-3123	CLIP-seq
MIRT1394407	hsa-miR-3127-5p	CLIP-seq
MIRT1394428	hsa-miR-3128	CLIP-seq
MIRT2634287	hsa-miR-3129-3p	CLIP-seq
MIRT2692175	hsa-miR-3144-3p	CLIP-seq
MIRT2634288	hsa-miR-3161	CLIP-seq
MIRT1394473	hsa-miR-3163	CLIP-seq
MIRT2634289	hsa-miR-32	CLIP-seq
MIRT1394430	hsa-miR-3201	CLIP-seq
MIRT2340494	hsa-miR-323-3p	CLIP-seq
MIRT1394431	hsa-miR-34a	CLIP-seq
MIRT1394432	hsa-miR-34c-5p	CLIP-seq
MIRT2634290	hsa-miR-3611	CLIP-seq
MIRT2340496	hsa-miR-3617	CLIP-seq
MIRT2634291	hsa-miR-3622b-5p	CLIP-seq
MIRT2634292	hsa-miR-363	CLIP-seq
MIRT1394433	hsa-miR-3662	CLIP-seq
MIRT2634293	hsa-miR-367	CLIP-seq
MIRT1394434	hsa-miR-3672	CLIP-seq
MIRT2634294	hsa-miR-3673	CLIP-seq
MIRT2634295	hsa-miR-3714	CLIP-seq
MIRT1394435	hsa-miR-380	CLIP-seq
MIRT2634297	hsa-miR-3910	CLIP-seq
MIRT1394436	hsa-miR-3925-5p	CLIP-seq
MIRT2118386	hsa-miR-410	CLIP-seq
MIRT1394486	hsa-miR-4263	CLIP-seq
MIRT1394438	hsa-miR-4279	CLIP-seq
MIRT2340498	hsa-miR-4325	CLIP-seq
MIRT1394440	hsa-miR-4420	CLIP-seq
MIRT1394441	hsa-miR-4463	CLIP-seq
MIRT2634298	hsa-miR-4477a	CLIP-seq
MIRT2634299	hsa-miR-4491	CLIP-seq
MIRT1394442	hsa-miR-449a	CLIP-seq
MIRT1394443	hsa-miR-449b	CLIP-seq
MIRT2634300	hsa-miR-4506	CLIP-seq
MIRT1394444	hsa-miR-4643	CLIP-seq
MIRT2634301	hsa-miR-4652-3p	CLIP-seq
MIRT2634302	hsa-miR-4657	CLIP-seq
MIRT1394445	hsa-miR-466	CLIP-seq
MIRT1394446	hsa-miR-4698	CLIP-seq
MIRT2692176	hsa-miR-4699-3p	CLIP-seq
MIRT2634303	hsa-miR-4699-5p	CLIP-seq
MIRT1394447	hsa-miR-4720-5p	CLIP-seq
MIRT1394448	hsa-miR-4724-3p	CLIP-seq
MIRT2634304	hsa-miR-4735-5p	CLIP-seq
MIRT1394502	hsa-miR-4749-3p	CLIP-seq
MIRT2692177	hsa-miR-4777-3p	CLIP-seq
MIRT1394449	hsa-miR-4782-5p	CLIP-seq
MIRT1394450	hsa-miR-4789-3p	CLIP-seq
MIRT1394451	hsa-miR-4791	CLIP-seq
MIRT1394452	hsa-miR-4799-3p	CLIP-seq
MIRT2634308	hsa-miR-506	CLIP-seq
MIRT2340504	hsa-miR-513c	CLIP-seq
MIRT2340505	hsa-miR-514b-5p	CLIP-seq
MIRT1394411	hsa-miR-548a-3p	CLIP-seq
MIRT1394412	hsa-miR-548ae	CLIP-seq
MIRT1394413	hsa-miR-548aj	CLIP-seq
MIRT1394414	hsa-miR-548am	CLIP-seq
MIRT1394454	hsa-miR-548c-3p	CLIP-seq
MIRT1394415	hsa-miR-548e	CLIP-seq
MIRT1394416	hsa-miR-548f	CLIP-seq
MIRT1394417	hsa-miR-548g	CLIP-seq
MIRT1394418	hsa-miR-548x	CLIP-seq
MIRT2634322	hsa-miR-562	CLIP-seq
MIRT2634323	hsa-miR-563	CLIP-seq
MIRT2340507	hsa-miR-570	CLIP-seq
MIRT2634324	hsa-miR-571	CLIP-seq
MIRT1394513	hsa-miR-576-5p	CLIP-seq
MIRT2634325	hsa-miR-578	CLIP-seq
MIRT2634327	hsa-miR-613	CLIP-seq
MIRT2340508	hsa-miR-641	CLIP-seq
MIRT2634328	hsa-miR-643	CLIP-seq
MIRT2634329	hsa-miR-758	CLIP-seq
MIRT2634330	hsa-miR-765	CLIP-seq
MIRT2692178	hsa-miR-875-5p	CLIP-seq
MIRT1394456	hsa-miR-889	CLIP-seq
MIRT2634331	hsa-miR-92a	CLIP-seq
MIRT2634332	hsa-miR-92b	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	TAS
GO:0000785	Component	Chromatin	IBA	21873635
GO:0000785	Component	Chromatin	IDA	16682347
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15737063, 15855230, 16682347, 17112726, 17113138, 17349791, 17962804, 18235444, 19629043, 20360068, 20818333, 22885700, 23242214, 24981860, 25173175, 26496610, 29263825, 29867216, 30021884
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	TAS	9305759
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0007062	Process	Sister chromatid cohesion	IBA	21873635
GO:0007062	Process	Sister chromatid cohesion	IMP	15917200, 28296084, 29263825
GO:0008278	Component	Cohesin complex	IBA	21873635
GO:0008278	Component	Cohesin complex	IDA	11590136
GO:0008278	Component	Cohesin complex	IMP	29263825
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	IDA	11590136
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0090307	Process	Mitotic spindle assembly	IMP	11590136
GO:0097431	Component	Mitotic spindle pole	IDA	11590136

MIM	HGNC	e!Ensembl
300826	11355	ENSG00000101972

Protein

UniProt ID

Q8N3U4

Protein name

Cohesin subunit SA-2 (SCC3 homolog 2) (Stromal antigen 2)

Protein function

Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex

PDB

4PJU , 4PJW , 4PK7 , 6QNX , 7ZJS , 8K4D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08514	STAG	157 → 271	STAG domain	Family

Sequence

MIAAPEIPTDFNLLQESETHFSSDTDFEDIEGKNQKQGKGKTCKKGKKGPAEKGKGGNGG
GKPPSGPNRMNGHHQQNGVENMMLFEVVKMGKSAMQSVVDDWIESYKHDRDIALLDLINF
FIQCSGCKGVVTAEMFRHMQNSEIIRKMTEEFDEDSGDYPLTMAGPQWKKFKSSFCEFIG
VLVRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLAAMKLMTALVNVALNLSIN
MDNTQRQYEAERNKMIGKRANERLELLLQKRKELQENQDEIENMMNAIFKGVFVHRYRDA
IAEIRAICIEEIGIWMKMYSDAFLNDSYLKYVGWTMHDKQGEVRLKCLTALQGLYYNKEL
NSKLELFTSRFKDRIVSMTLDKEYDVAVQAIKLLTLVLQSSEEVLTAEDCENVYHLVYSA
HRPVAVAAGEFLYKKLFSRRDPEEDGMMKRRGRQGPNANLVKTLVFFFLESELHEHAAYL
VDSMWDCATELLKDWECMNSLLLEEPLSGEEALTDRQESALIEIMLCTIRQAAECHPPVG
RGTGKRVLTAKEKKTQLDDRTKITELFAVALPQLLAKYSVDAEKVTNLLQLPQYFDLEIY
TTGRLEKHLDALLRQIRNIVEKHTDTDVLEACSKTYHALCNEEFTIFNRVDISRSQLIDE
LADKFNRLLEDFLQEGEEPDEDDAYQVLSTLKRITAFHNAHDLSKWDLFACNYKLLKTGI
ENGDMPEQIVIHALQCTHYVILWQLAKITESSSTKEDLLRLKKQMRVFCQICQHYLTNVN
TTVKEQAFTILCDILMIFSHQIMSGGRDMLEPLVYTPDSSLQSELLSFILDHVFIEQDDD
NNSADGQQEDEASKIEALHKRRNLLAAFCKLIVYTVVEMNTAADIFKQYMKYYNDYGDII
KETMSKTRQIDKIQCAKTLILSLQQLFNEMIQENGYNFDRSSSTFSGIKELARRFALTFG
LDQLKTREAIAMLHKDGIEFAFKEPNPQGESHPPLNLAFLDILSEFSSKLLRQDKRTVYV
YLEKFMTFQMSLRREDVWLPLMSYRNSLLAGGDDDTMSVISGISSRGSTVRSKKSKPSTG
KRKVVEGMQLSLTEESSSSDSMWLSREQTLHTPVMMQTPQLTSTIMREPKRLRPEDSFMS
VYPMQTEHHQTPLDYNRRGTSLMEDDEEPIVEDVMMSSEGRIEDLNEGMDFDTMDIDLPP
SKNRRERTELKPDFFDPASIMDESVLGVSMF

Sequence length

1231

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression

Associated diseases

Show/Hide Causal Diseases (16)

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	25450604
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	25450604
Glioblastoma	Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Leukemia, megakaryoblastic, of down syndrome	Leukemia, Megakaryoblastic, of Down Syndrome	rs398124627	24056718
Melanoma	melanoma, Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	25450604
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	25450604
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	27992414
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar holoprosencephaly	rs876661334, rs876661329, rs876661328
Lymphoproliferative syndrome, x-linked	X-Linked Lymphoproliferative Disorder	rs111033623, rs111033628, rs111033624, rs1603238847, rs111033625, rs111033626, rs1603236465, rs111033629, rs111033630, rs1556404534, rs104894764, rs387907301, rs587777612, rs1556406033, rs1556404673, rs1556404697, rs1556404455, rs1556408009, rs1556404575, rs1556404684, rs1556619319, rs1556620706, rs1556620697, rs111978474, rs2053350325, rs1569477871, rs1569527111, rs1602546782, rs1602544507, rs1602562990, rs2053346219, rs2053348573	9771704, 10934222, 9811875, 11493483, 11414741, 27209435, 21707584, 10598819, 15661030, 10694488, 15908972, 11159547, 14583885, 22493517, 24985396, 12224001, 15359110

Show/Hide Unknown Diseases (26)

Unknown
Disease name	Disease term	dbSNP ID	References
Alobar holoprosencephaly	Alobar holoprosencephaly
Anxiety disorder	Anxiety
Benign neoplasm of bladder	Benign neoplasm of bladder
Urinary bladder cancer	Malignant neoplasm of urinary bladder		24121791, 24121792, 24121789
Bladder neoplasm	Bladder Neoplasm		24121792, 24121789, 24121791
Bladder carcinoma	Carcinoma of bladder, Carcinoma in situ of bladder
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital epicanthus	Congenital Epicanthus
Dwarfism	Dwarfism
Dyssomnia	Dyssomnias
Encephalitis	Encephalitis
Ewing sarcoma	Ewings sarcoma
Frontal bossing	Frontal bossing
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Leukopenia	Leukopenia
Malocclusion	Class III malocclusion
Micrognathism	Micrognathism
Microtia	Congenital small ears
Monocytic leukemia	Leukemia, Monocytic, Chronic		23955599
Myeloid leukemia	Myeloid Leukemia		23955599
Proptosis	Exophthalmos
Respiratory failure	Respiratory Failure
Sleep disorders	Sleep Disorders
Xq25 duplication syndrome	Xq25 DUPLICATION SYNDROME, Xq25 microduplication syndrome		26443594, 25677961
Xq25 triplication syndrome	Xq25 TRIPLICATION SYNDROME		26443594, 25677961

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