RAI1 (retinoic acid induced 1)

Gene

• Entrez ID: 10743
• Gene name: Retinoic acid induced 1
• Gene symbol: RAI1
• Synonyms (NCBI Gene): SMCR, SMS
• Disease Acronyms (UniProt): SMS
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34521483	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs104894633	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894634	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs142981643	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs149716029	GAG>-	Benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs368106957	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376044849	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs398124419	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs527236033	G>A	Pathogenic	Stop gained, coding sequence variant
rs727504118	A>T	Pathogenic	Coding sequence variant, stop gained
rs727504119	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs750335388	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753540389	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs755572135	G>A,C	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs878853142	GGCAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039715	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041916	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044681	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796156	AGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796209	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691617	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691817	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1135401792	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565108	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555565170	->AGCACGCCACAGTCCACGCATGCGGAGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555565243	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565426	CCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565492	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555565533	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555565674	GCC>CT	Pathogenic	Frameshift variant, coding sequence variant
rs1555566042	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555566124	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555566164	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567917533	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598086801	GTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598088228	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598088235	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598089943	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598090354	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598090745	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598091391	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598092034	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598092236	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598093659	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052256	hsa-let-7b-5p	CLASH	23622248
MIRT041078	hsa-miR-504-5p	CLASH	23622248
MIRT039088	hsa-miR-769-3p	CLASH	23622248
MIRT037657	hsa-miR-744-5p	CLASH	23622248
MIRT052878	hsa-miR-3687	CLASH	23622248
MIRT706799	hsa-miR-4532	HITS-CLIP	21572407
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	21572407
MIRT706798	hsa-miR-150-5p	HITS-CLIP	21572407
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	21572407
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	21572407
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	21572407
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	21572407
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT706793	hsa-miR-4303	HITS-CLIP	21572407
MIRT469619	hsa-miR-1197	PAR-CLIP	20371350
MIRT469618	hsa-miR-3937	PAR-CLIP	20371350
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT469616	hsa-miR-4462	PAR-CLIP	20371350
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT469613	hsa-miR-184	PAR-CLIP	20371350
MIRT469612	hsa-miR-4515	PAR-CLIP	20371350
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	21572407
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT516900	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516899	hsa-miR-3924	PAR-CLIP	21572407
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	23446348
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516900	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516899	hsa-miR-3924	PAR-CLIP	23446348
MIRT144848	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT469619	hsa-miR-1197	PAR-CLIP	23592263
MIRT469618	hsa-miR-3937	PAR-CLIP	23592263
MIRT469617	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT469616	hsa-miR-4462	PAR-CLIP	23592263
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT469613	hsa-miR-184	PAR-CLIP	23592263
MIRT469612	hsa-miR-4515	PAR-CLIP	23592263
MIRT469611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT469610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT469609	hsa-miR-4736	PAR-CLIP	23592263
MIRT469608	hsa-miR-3199	PAR-CLIP	23592263
MIRT469607	hsa-miR-8052	PAR-CLIP	23592263
MIRT469606	hsa-miR-7150	PAR-CLIP	23592263
MIRT144808	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT144808	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	27418678
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	27418678
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	27418678
MIRT706798	hsa-miR-150-5p	HITS-CLIP	27418678
MIRT706793	hsa-miR-4303	HITS-CLIP	27418678
MIRT706799	hsa-miR-4532	HITS-CLIP	27418678
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	27418678
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	27418678
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	27418678
MIRT706799	hsa-miR-4532	HITS-CLIP	21572407
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	21572407
MIRT706798	hsa-miR-150-5p	HITS-CLIP	21572407
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	21572407
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	21572407
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	21572407
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	21572407
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT706793	hsa-miR-4303	HITS-CLIP	21572407
MIRT469619	hsa-miR-1197	PAR-CLIP	20371350
MIRT469618	hsa-miR-3937	PAR-CLIP	20371350
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT469616	hsa-miR-4462	PAR-CLIP	20371350
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT469613	hsa-miR-184	PAR-CLIP	20371350
MIRT469612	hsa-miR-4515	PAR-CLIP	20371350
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	21572407
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT516900	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516899	hsa-miR-3924	PAR-CLIP	21572407
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	23446348
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516900	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516899	hsa-miR-3924	PAR-CLIP	23446348
MIRT144848	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT469619	hsa-miR-1197	PAR-CLIP	23592263
MIRT469618	hsa-miR-3937	PAR-CLIP	23592263
MIRT469617	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT469616	hsa-miR-4462	PAR-CLIP	23592263
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT469613	hsa-miR-184	PAR-CLIP	23592263
MIRT469612	hsa-miR-4515	PAR-CLIP	23592263
MIRT469611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT469610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT469609	hsa-miR-4736	PAR-CLIP	23592263
MIRT469608	hsa-miR-3199	PAR-CLIP	23592263
MIRT469607	hsa-miR-8052	PAR-CLIP	23592263
MIRT469606	hsa-miR-7150	PAR-CLIP	23592263
MIRT1288460	hsa-miR-1	CLIP-seq
MIRT1288461	hsa-miR-1224-5p	CLIP-seq
MIRT1288462	hsa-miR-1238	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288465	hsa-miR-1587	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288468	hsa-miR-206	CLIP-seq
MIRT1288469	hsa-miR-3065-3p	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288472	hsa-miR-3143	CLIP-seq
MIRT1288473	hsa-miR-3160-3p	CLIP-seq
MIRT1288474	hsa-miR-3169	CLIP-seq
MIRT1288475	hsa-miR-329	CLIP-seq
MIRT1288476	hsa-miR-331-3p	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288478	hsa-miR-3611	CLIP-seq
MIRT1288479	hsa-miR-362-3p	CLIP-seq
MIRT1288480	hsa-miR-3673	CLIP-seq
MIRT1288481	hsa-miR-3690	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288483	hsa-miR-3941	CLIP-seq
MIRT1288484	hsa-miR-3942-5p	CLIP-seq
MIRT1288485	hsa-miR-3978	CLIP-seq
MIRT1288486	hsa-miR-4276	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT1288488	hsa-miR-4302	CLIP-seq
MIRT1288489	hsa-miR-4308	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT1288491	hsa-miR-4467	CLIP-seq
MIRT1288492	hsa-miR-4486	CLIP-seq
MIRT1288493	hsa-miR-4488	CLIP-seq
MIRT1288494	hsa-miR-4492	CLIP-seq
MIRT1288495	hsa-miR-4493	CLIP-seq
MIRT1288496	hsa-miR-4498	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288498	hsa-miR-450a	CLIP-seq
MIRT1288499	hsa-miR-4511	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288503	hsa-miR-4656	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288506	hsa-miR-4675	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288508	hsa-miR-4691-5p	CLIP-seq
MIRT1288509	hsa-miR-4697-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT1288511	hsa-miR-4703-5p	CLIP-seq
MIRT1288512	hsa-miR-4726-3p	CLIP-seq
MIRT1288513	hsa-miR-4731-5p	CLIP-seq
MIRT1288514	hsa-miR-4741	CLIP-seq
MIRT1288515	hsa-miR-4747-5p	CLIP-seq
MIRT1288516	hsa-miR-4751	CLIP-seq
MIRT1288517	hsa-miR-543	CLIP-seq
MIRT1288518	hsa-miR-548b-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288520	hsa-miR-603	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT1288523	hsa-miR-613	CLIP-seq
MIRT1288524	hsa-miR-629	CLIP-seq
MIRT1288525	hsa-miR-637	CLIP-seq
MIRT1288526	hsa-miR-662	CLIP-seq
MIRT1288527	hsa-miR-762	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288529	hsa-miR-875-3p	CLIP-seq
MIRT1552900	hsa-miR-452	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085499	hsa-miR-1224-3p	CLIP-seq
MIRT1288461	hsa-miR-1224-5p	CLIP-seq
MIRT2085500	hsa-miR-1260	CLIP-seq
MIRT2085501	hsa-miR-1260b	CLIP-seq
MIRT2085502	hsa-miR-1280	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288465	hsa-miR-1587	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288473	hsa-miR-3160-3p	CLIP-seq
MIRT1288474	hsa-miR-3169	CLIP-seq
MIRT2085504	hsa-miR-3176	CLIP-seq
MIRT2085505	hsa-miR-323-5p	CLIP-seq
MIRT2085506	hsa-miR-339-3p	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT2085507	hsa-miR-3922-3p	CLIP-seq
MIRT2085508	hsa-miR-3929	CLIP-seq
MIRT1288485	hsa-miR-3978	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT2085509	hsa-miR-4419b	CLIP-seq
MIRT2085510	hsa-miR-4478	CLIP-seq
MIRT1288493	hsa-miR-4488	CLIP-seq
MIRT1288494	hsa-miR-4492	CLIP-seq
MIRT1288496	hsa-miR-4498	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288503	hsa-miR-4656	CLIP-seq
MIRT2085511	hsa-miR-4663	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288506	hsa-miR-4675	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288509	hsa-miR-4697-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT2085512	hsa-miR-4713-5p	CLIP-seq
MIRT1288513	hsa-miR-4731-5p	CLIP-seq
MIRT1288514	hsa-miR-4741	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT1288516	hsa-miR-4751	CLIP-seq
MIRT2085514	hsa-miR-485-5p	CLIP-seq
MIRT2085515	hsa-miR-532-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT2085516	hsa-miR-635	CLIP-seq
MIRT1288525	hsa-miR-637	CLIP-seq
MIRT1288527	hsa-miR-762	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288529	hsa-miR-875-3p	CLIP-seq
MIRT2085517	hsa-miR-876-3p	CLIP-seq
MIRT2310823	hsa-miR-1267	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288475	hsa-miR-329	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288479	hsa-miR-362-3p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288483	hsa-miR-3941	CLIP-seq
MIRT2310824	hsa-miR-410	CLIP-seq
MIRT2310825	hsa-miR-4260	CLIP-seq
MIRT2310826	hsa-miR-4283	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT2310827	hsa-miR-4489	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT2310828	hsa-miR-4747-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288520	hsa-miR-603	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT2310829	hsa-miR-760	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT2689298	hsa-miR-3943	CLIP-seq
MIRT2689299	hsa-miR-4323	CLIP-seq
MIRT2689300	hsa-miR-4520a-5p	CLIP-seq
MIRT2689301	hsa-miR-4520b-5p	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT2689302	hsa-miR-647	CLIP-seq
MIRT2689303	hsa-miR-941	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0032922	Process	Circadian regulation of gene expression	IBA	21873635
GO:0032922	Process	Circadian regulation of gene expression	IMP	22578325
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	22578325
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 607642
• HGNC: 9834
• e!Ensembl: ENSG00000108557

Protein

• UniProt ID: Q7Z5J4
• Protein name: Retinoic acid-induced protein 1
• Protein function: Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription thr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13771	zf-HC5HC2H	1825 → 1903		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. {ECO:0000269|PubMed:12837267}.
• Sequence:

  MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDYYNPQPYPSYE
  GGAGTPSGTAAAVAADKYHRGSKALPTQQGLQGRPAFPGYGVQDSSPYPGRYAGEESLQA
  WGAPQPPPPQPQPLPAGVAKYDENLMKKTAVPPSRQYAEQGAQVPFRTHSLHVQQPPPPQ
  QPLAYPKLQRQKLQNDIASPLPFPQGTHFPQHSQSFPTSSTYSSSVQGGGQGAHSYKSCT
  APTAQPHDRPLTASSSLAPGQRVQNLHAYQSGRLSYDQQQQQQQQQQQQQQALQSRHHAQ
  ETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSVGRSPSYSSTP
  SPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSPTDATSSVDTQAGNCKPLQKD
  KLPENLLSDLSLQSLTALTSQVENISNTVQQLLLSKAAVPQKKGVKNLVSRTPEQHKSQH
  CSPEGSGYSAEPAGTPLSEPPSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPA
  RVNSNSKAKPESVSTCSVTSPDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLS
  ALAQEDLASEILGLQEAIGEKADKAWAEAPSLVKDSSKPPFSLENHSACLDSVAKSAWPR
  PGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPKKTTGPLSFGTKPTLGVPAPD
  PTTAAFDCFPDTTAASSADSANPFAWPEENLGDACPRWGLHPGELTKGLEQGGKASDGIS
  KGDTHEASACLGFQEEDPPGEKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLED
  SRHCCSTADFGDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICT
  KEEVEEVLDSKAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMKPGEEGPDGER
  APGDSTTSDASLAQKPNKPAVPEAPIAKKEPVPRGKSLRSRRVHRGLPEAEDSPCRAPVL
  PKDLLLPESCTGPPQGQMEGAGAPGRGASEGLPRMCTRSLTALSEPRTPGPPGLTTTPAP
  PDKLGGKQRAAFKSGKRVGKPSPKAASSPSNPAALPVASDSSPMGSKTKETDSPSTPGKD
  QRSMILRSRTKTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVSSSPQKEGRVS
  QRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSNASGNGGDGKE
  ERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDACLKLASRAAFQGAMKTKVLP
  PRKGRGLKLEAIVQKITSPSLKKFACKAPGASPGNPLSPSLSDKDRGLKGAGGSPVGVEE
  GLVNVGTGQKLPTSGADPLCRNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGT
  ALAPKKRSRKGRAGAHGLSKGPLEKRPYLGPALLLTPRDRASGTQGASEDNSGGGGKKPK
  MEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRLTRGRAKNTTSSPCKGRAKRR
  RQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVRVEKRDAFTTICTVVNSPGDA
  PKPHRKPSSSASSSSSSSSFSLDAAGASLATLPGGSILQPRPSLPLSSTMHLGPVVSKAL
  STSCLVCCLCQNPANFKDLGDLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTL
  KGPECAAAATAGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPAD
  KGRKHECSKEAPAEPGGEAQEHWVHEACAVWTGGVYLVAGKLFGLQEAMKVAVDMMCSSC
  QEAGATIGCCHKGCLHTYHYPCASDAGCIFIEENFSLKCPKHKRLP

• Sequence length: 1906

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20981775
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
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
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458, 28566273
Hearing loss	Conductive hearing loss	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
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Mental retardation	Profound Mental Retardation, Mental deficiency, Mental Retardation, Mild Mental Retardation, 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	19752160
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, 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	22535842
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25781356, 16845274, 15788730, 17041942, 15565467, 26544804, 26891008, 21857958, 21897445
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	19116176, 15459175
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	21738487
Potocki-lupski syndrome	Potocki-Lupski syndrome	rs758385503	20188345, 17517686
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	29483656, 12837267
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Smith-magenis syndrome	Smith-Magenis syndrome	rs104894634, rs1598092236, rs527236033, rs1135401792, rs1555566042, rs1555565492, rs1598091391, rs1598089943, rs1598093659, rs1598088235	12652298, 15565467, 19236431, 20691407, 19116176, 19752160, 20981775, 22578325, 18285828, 15746153, 15788730, 27693255, 16845274, 17041942, 17273973, 17517686, 15459175

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Chronic otitis media			ClinVar
Potocki-Lupski Syndrome	Potocki-Lupski syndrome			GenCC
Diabetes	Diabetes			GWAS
Eczema	Eczema			GWAS
Carcinoma	Carcinoma			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acrocephalosyndactylia	Associate	31490983
Adenocarcinoma	Associate	34663915
Androgen Insensitivity Syndrome	Associate	24863970
Autism Spectrum Disorder	Associate	25271084
Autistic Disorder	Associate	17357070, 20188345, 24519454
Breast Neoplasms	Associate	27959582
Cardiovascular Abnormalities	Associate	17357070
Charcot Marie Tooth Disease	Associate	26544804
Chromosome Duplication	Associate	26544804
Cognition Disorders	Associate	27311559
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24519454
Coronary Artery Disease	Associate	34672391
Death Sudden	Associate	37995443
Developmental Disabilities	Associate	24519454, 25271084
Diabetes Mellitus	Associate	17019602
Diabetes Mellitus Type 2	Associate	17019602, 34672391
Eczema	Associate	37756600
Epilepsy	Associate	37995443
Failure to Thrive	Associate	17357070
Gastroesophageal Reflux	Associate	34663915
Growth Disorders	Associate	16845274
Hearing Loss	Associate	16845274, 27082237
Heart Diseases	Associate	16845274
Intellectual Disability	Associate	17357070
Language Development Disorders	Associate	16845274
Leprosy Tuberculoid	Associate	24519454
Lymphangioma Cystic	Associate	33218422
Mental Disorders	Associate	26743651
Muscle Hypotonia	Associate	16845274, 17357070
Obesity	Associate	37329217
Obesity Hypoventilation Syndrome	Associate	25781356
Obesity Morbid	Associate	25781356
Parkinson Disease	Associate	21738487, 27393345
Peripheral Nervous System Diseases	Associate	27386852
Potocki Lupski syndrome	Associate	17357070, 20188345, 21271655, 23255863, 24519454, 25228304, 26544804, 26743651, 28413209, 31342617, 35821519
Schizophrenia	Associate	24519454
Sleep Apnea Syndromes	Associate	17357070
Sleep Wake Disorders	Associate	31139831
Sleepiness	Associate	31139831
Smith Magenis Syndrome	Associate	16845274, 17468296, 20691407, 20981775, 21857958, 21897445, 22911601, 24863970, 25228304, 25781356, 26743651, 26817868, 27311559, 27386852, 28040141, 28286158, 29321841, 30690916, 31014384, 31342617, 33218422, 35821519, 36411275, 37756600, 39260069
Spinocerebellar Ataxias	Associate	34565721
Sudden Infant Death	Associate	37995443
Tomaculous neuropathy	Associate	27386852