RAD50 (RAD50 double strand break repair protein)

Gene

• Entrez ID: 10111
• Gene name: RAD50 double strand break repair protein
• Gene symbol: RAD50
• Synonyms (NCBI Gene): NBSLD, RAD502, hRad50
• Disease Acronyms (UniProt): NBSLD
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28903084	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs28903085	A>C,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28903086	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant
rs28903088	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs28903090	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28903091	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs61749630	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs104895046	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs113018012	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121912628	C>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs138749920	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs141989813	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142947311	C>T	Pathogenic	Stop gained, coding sequence variant
rs143189763	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs146370443	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147366706	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149201802	C>G,T	Pathogenic, likely-benign, benign	Coding sequence variant, stop gained, synonymous variant
rs150030986	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs181016343	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs181961360	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199867309	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs200017020	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202047873	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs368980595	C>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs370769989	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373428259	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs374561375	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs375264148	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377429225	C>T	Pathogenic	Coding sequence variant, stop gained
rs397507177	C>T	Pathogenic	Coding sequence variant, stop gained
rs397507178	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs549559726	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs558302979	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587780147	GATAAGA>-,GATAAGAGATAAGA	Pathogenic	Coding sequence variant, stop gained, inframe indel, frameshift variant
rs587780150	C>T	Pathogenic	Coding sequence variant, stop gained
rs587780153	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780154	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780155	CAGA>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs587781327	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781355	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781454	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587781576	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587781721	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781742	G>A,T	Likely-pathogenic	Splice acceptor variant
rs587781904	C>A	Pathogenic	Coding sequence variant, stop gained
rs587781930	TCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782078	G>A	Likely-pathogenic	Splice donor variant
rs587782090	G>T	Pathogenic	Coding sequence variant, stop gained
rs587782543	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587782895	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747951988	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748536322	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs749466673	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs753905518	->C	Pathogenic	Frameshift variant, coding sequence variant
rs753950483	T>-	Pathogenic	Stop gained, coding sequence variant
rs758641567	C>T	Pathogenic	Stop gained, coding sequence variant
rs760146707	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs762648843	G>A,C	Likely-pathogenic	Splice donor variant
rs764122619	T>C	Likely-pathogenic	Splice donor variant
rs764449224	G>T	Pathogenic	Coding sequence variant, stop gained
rs764968413	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs765484171	G>T	Likely-pathogenic	Splice donor variant
rs765975825	C>T	Pathogenic	Coding sequence variant, stop gained
rs766315644	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs768522804	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs769047012	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs770082735	->T	Pathogenic	Coding sequence variant, frameshift variant
rs771855778	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs772468452	C>T	Pathogenic	Coding sequence variant, stop gained
rs773761143	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs775069541	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs776276760	C>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs776395588	T>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs777678214	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs780230934	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786201531	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs786201702	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786201789	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786201897	->A	Pathogenic	Coding sequence variant, frameshift variant
rs786202187	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203151	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203403	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203485	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs786203655	GAGA>-,GAGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs786203805	G>A,C,T	Likely-pathogenic	Splice donor variant
rs863224509	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs864622393	CTGCAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs876658213	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs876658784	G>A,T	Likely-pathogenic	Splice acceptor variant
rs876658976	->T	Pathogenic	Coding sequence variant, frameshift variant
rs876659005	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs876659132	G>T	Pathogenic	Coding sequence variant, stop gained
rs876659158	GTAAG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs876659255	TC>A	Pathogenic	Coding sequence variant, frameshift variant
rs876659837	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659971	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs876660039	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660160	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660281	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs876660364	A>T	Pathogenic	Coding sequence variant, stop gained
rs876660728	A>G	Likely-pathogenic	Splice acceptor variant
rs876660797	C>T	Pathogenic	Coding sequence variant, stop gained
rs876660957	A>C	Likely-pathogenic	Splice acceptor variant
rs878854795	->A	Pathogenic	Coding sequence variant, frameshift variant
rs878854797	AGAAAGAA>T	Pathogenic	Coding sequence variant, frameshift variant
rs947142407	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs980964237	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501923	TATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501936	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060501941	CACA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1060501942	CTTAA>-	Pathogenic	Stop gained, coding sequence variant
rs1060501949	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501954	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501970	A>C	Likely-pathogenic	Splice acceptor variant
rs1060501973	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064792948	TCAAGAAGAT>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1211207020	GACATAGAAGAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1233081327	C>T	Pathogenic	Coding sequence variant, stop gained
rs1235022794	ACAAAG>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1236278956	G>A	Likely-pathogenic	Splice acceptor variant
rs1247689593	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs1253904315	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1272811865	TAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1281337925	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1297931573	G>-	Pathogenic	Stop gained, coding sequence variant
rs1356107538	G>C	Likely-pathogenic	Splice donor variant
rs1388500583	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1446519890	G>C,T	Likely-pathogenic	Intron variant
rs1458900761	->T,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs1554096791	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554097755	A>G	Likely-pathogenic	Splice acceptor variant
rs1554097758	GTCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554097816	T>-	Pathogenic	Coding sequence variant, stop gained
rs1554097840	GGT>TG	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1554098156	G>C	Likely-pathogenic	Splice acceptor variant
rs1554098191	ACAGGTTTT>CAAATAAA	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554098203	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098250	CAGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554098251	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554098262	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554098316	TAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098326	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098333	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1554098466	A>G	Likely-pathogenic	Splice acceptor variant
rs1554098484	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554098584	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554098588	AAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098589	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098661	->GCCA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1554098662	G>A	Likely-pathogenic	Splice acceptor variant
rs1554098683	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554098706	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554099081	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554099106	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099112	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099320	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554099356	A>C	Likely-pathogenic	Splice acceptor variant
rs1554099372	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099388	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554099774	A>G	Likely-pathogenic	Splice acceptor variant
rs1554099776	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554099781	ACTT>-	Pathogenic	Coding sequence variant, stop gained
rs1554099864	T>A,G	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554099874	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554099888	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561628206	A>G	Likely-pathogenic	Splice acceptor variant
rs1561634357	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561635887	->TA	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1561639636	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1561640129	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1561641010	->GAAC	Pathogenic	Frameshift variant, coding sequence variant
rs1561641132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1561642039	AGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561647410	G>T	Pathogenic	Stop gained, coding sequence variant
rs1561647533	C>T	Pathogenic	Stop gained, coding sequence variant
rs1561647559	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561650088	G>T	Pathogenic	Stop gained, coding sequence variant
rs1580985027	ATGTCAATGGAGAACTTATAGCTGTGCAAAGATCTATGGTGTGTACTCAGAAAAGCAAAAAGACAGAATTTAAAACTCTGGAAGGAGTCATTACTAGAACAAAGTAGGTGTTTATATGATATTTGAATTTCTGTTCATTTTCAGTCTTTT>CAAAAAGAC	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1580987151	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987185	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987375	T>A,C	Likely-pathogenic	Splice donor variant
rs1580987596	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987780	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987798	AT>-	Pathogenic	Coding sequence variant, stop gained
rs1580991792	->TCTA	Pathogenic	Coding sequence variant, frameshift variant
rs1580992079	G>C	Likely-pathogenic	Splice acceptor variant
rs1580992089	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580992265	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580992695	C>T	Pathogenic	Coding sequence variant, stop gained
rs1580992906	C>T	Pathogenic	Coding sequence variant, stop gained
rs1580993390	AGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580993404	GAGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580993516	A>T	Pathogenic	Coding sequence variant, stop gained
rs1580993525	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1580994859	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580996388	G>T	Pathogenic	Coding sequence variant, stop gained
rs1580996563	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580996988	->GTCA	Pathogenic	Coding sequence variant, frameshift variant
rs1580997021	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580997203	GG>CT	Pathogenic	Coding sequence variant, stop gained
rs1581001575	G>T	Likely-pathogenic	Splice donor variant
rs1581002180	C>T	Pathogenic	Coding sequence variant, stop gained
rs1581004275	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581004664	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581004749	G>A	Likely-pathogenic	Splice donor variant
rs1581004875	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581008368	C>T	Pathogenic	Coding sequence variant, stop gained
rs1581009347	A>T	Pathogenic	Coding sequence variant, stop gained
rs1581009466	GA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT721982	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT721981	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721980	hsa-miR-604	HITS-CLIP	19536157
MIRT721979	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT721978	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721977	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT721976	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721975	hsa-miR-647	HITS-CLIP	19536157
MIRT721974	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT721973	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721972	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721971	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721970	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT454893	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454892	hsa-miR-4496	PAR-CLIP	23592263
MIRT454891	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT454890	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT454889	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT454888	hsa-miR-4784	PAR-CLIP	23592263
MIRT454887	hsa-miR-4261	PAR-CLIP	23592263
MIRT454886	hsa-miR-5093	PAR-CLIP	23592263
MIRT454885	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT454883	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT454884	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT454882	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT454881	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT454880	hsa-miR-4689	PAR-CLIP	23592263
MIRT454879	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT439828	hsa-miR-544a	HITS-CLIP	24374217
MIRT439828	hsa-miR-544a	HITS-CLIP	24374217
MIRT721982	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT721981	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721980	hsa-miR-604	HITS-CLIP	19536157
MIRT721979	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT721978	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721977	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT721976	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721975	hsa-miR-647	HITS-CLIP	19536157
MIRT721974	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT721973	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721972	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721971	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721970	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT454893	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454892	hsa-miR-4496	PAR-CLIP	23592263
MIRT454891	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT454890	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT454889	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT454888	hsa-miR-4784	PAR-CLIP	23592263
MIRT454887	hsa-miR-4261	PAR-CLIP	23592263
MIRT454886	hsa-miR-5093	PAR-CLIP	23592263
MIRT454885	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT454883	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT454884	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT454882	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT454881	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT454880	hsa-miR-4689	PAR-CLIP	23592263
MIRT454879	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT1287913	hsa-miR-1243	CLIP-seq
MIRT1287914	hsa-miR-1290	CLIP-seq
MIRT1287915	hsa-miR-1298	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT1287917	hsa-miR-149	CLIP-seq
MIRT1287918	hsa-miR-24	CLIP-seq
MIRT1287919	hsa-miR-2682	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT1287921	hsa-miR-3143	CLIP-seq
MIRT1287922	hsa-miR-3146	CLIP-seq
MIRT1287923	hsa-miR-3150a-5p	CLIP-seq
MIRT1287924	hsa-miR-3150b-5p	CLIP-seq
MIRT1287925	hsa-miR-3167	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT1287928	hsa-miR-4251	CLIP-seq
MIRT1287929	hsa-miR-4257	CLIP-seq
MIRT1287930	hsa-miR-4284	CLIP-seq
MIRT1287931	hsa-miR-4307	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT1287933	hsa-miR-449c	CLIP-seq
MIRT1287934	hsa-miR-4514	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT1287936	hsa-miR-4645-5p	CLIP-seq
MIRT1287937	hsa-miR-4673	CLIP-seq
MIRT1287938	hsa-miR-4676-5p	CLIP-seq
MIRT1287939	hsa-miR-4679	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT1287941	hsa-miR-4692	CLIP-seq
MIRT1287942	hsa-miR-4699-3p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT1287944	hsa-miR-4786-3p	CLIP-seq
MIRT1287945	hsa-miR-4794	CLIP-seq
MIRT1287946	hsa-miR-539	CLIP-seq
MIRT1287947	hsa-miR-543	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT1287949	hsa-miR-575	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT1287951	hsa-miR-622	CLIP-seq
MIRT1287952	hsa-miR-664	CLIP-seq
MIRT1287953	hsa-miR-876-5p	CLIP-seq
MIRT2085253	hsa-miR-122	CLIP-seq
MIRT2085254	hsa-miR-1253	CLIP-seq
MIRT2085255	hsa-miR-1299	CLIP-seq
MIRT2085256	hsa-miR-1321	CLIP-seq
MIRT2085257	hsa-miR-190	CLIP-seq
MIRT2085258	hsa-miR-190b	CLIP-seq
MIRT2085259	hsa-miR-200b	CLIP-seq
MIRT2085260	hsa-miR-200c	CLIP-seq
MIRT2085261	hsa-miR-221	CLIP-seq
MIRT2085262	hsa-miR-222	CLIP-seq
MIRT2085263	hsa-miR-2467-3p	CLIP-seq
MIRT1287919	hsa-miR-2682	CLIP-seq
MIRT2085264	hsa-miR-3064-3p	CLIP-seq
MIRT1287922	hsa-miR-3146	CLIP-seq
MIRT2085265	hsa-miR-3150a-3p	CLIP-seq
MIRT2085266	hsa-miR-3159	CLIP-seq
MIRT2085267	hsa-miR-3175	CLIP-seq
MIRT2085268	hsa-miR-3612	CLIP-seq
MIRT2085269	hsa-miR-3659	CLIP-seq
MIRT2085270	hsa-miR-3663-5p	CLIP-seq
MIRT2085271	hsa-miR-412	CLIP-seq
MIRT2085272	hsa-miR-429	CLIP-seq
MIRT2085273	hsa-miR-4328	CLIP-seq
MIRT2085274	hsa-miR-4330	CLIP-seq
MIRT2085275	hsa-miR-4419a	CLIP-seq
MIRT2085276	hsa-miR-4438	CLIP-seq
MIRT1287933	hsa-miR-449c	CLIP-seq
MIRT2085277	hsa-miR-4510	CLIP-seq
MIRT2085278	hsa-miR-4667-5p	CLIP-seq
MIRT2085279	hsa-miR-4672	CLIP-seq
MIRT2085280	hsa-miR-4700-5p	CLIP-seq
MIRT2085281	hsa-miR-4728-5p	CLIP-seq
MIRT2085282	hsa-miR-4739	CLIP-seq
MIRT2085283	hsa-miR-4756-5p	CLIP-seq
MIRT2085284	hsa-miR-4778-3p	CLIP-seq
MIRT1287944	hsa-miR-4786-3p	CLIP-seq
MIRT2085285	hsa-miR-4793-5p	CLIP-seq
MIRT2085286	hsa-miR-507	CLIP-seq
MIRT2085287	hsa-miR-5095	CLIP-seq
MIRT2085288	hsa-miR-510	CLIP-seq
MIRT2085289	hsa-miR-512-5p	CLIP-seq
MIRT2085290	hsa-miR-548v	CLIP-seq
MIRT2085291	hsa-miR-557	CLIP-seq
MIRT2085292	hsa-miR-650	CLIP-seq
MIRT2085293	hsa-miR-939	CLIP-seq
MIRT2310722	hsa-miR-1224-5p	CLIP-seq
MIRT2310723	hsa-miR-183	CLIP-seq
MIRT2085264	hsa-miR-3064-3p	CLIP-seq
MIRT2310724	hsa-miR-3127-5p	CLIP-seq
MIRT2310725	hsa-miR-3145-3p	CLIP-seq
MIRT2310726	hsa-miR-4303	CLIP-seq
MIRT2310727	hsa-miR-4531	CLIP-seq
MIRT2310728	hsa-miR-4649-3p	CLIP-seq
MIRT2310729	hsa-miR-4716-3p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2310731	hsa-miR-4747-5p	CLIP-seq
MIRT2310732	hsa-miR-4751	CLIP-seq
MIRT2310733	hsa-miR-4762-3p	CLIP-seq
MIRT2310734	hsa-miR-616	CLIP-seq
MIRT2310735	hsa-miR-625	CLIP-seq
MIRT2085265	hsa-miR-3150a-3p	CLIP-seq
MIRT2607069	hsa-miR-1	CLIP-seq
MIRT2607070	hsa-miR-1236	CLIP-seq
MIRT2607071	hsa-miR-1254	CLIP-seq
MIRT2607072	hsa-miR-1275	CLIP-seq
MIRT2607073	hsa-miR-1283	CLIP-seq
MIRT2607074	hsa-miR-1296	CLIP-seq
MIRT2085255	hsa-miR-1299	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT2607075	hsa-miR-134	CLIP-seq
MIRT2607076	hsa-miR-147	CLIP-seq
MIRT2607077	hsa-miR-15a	CLIP-seq
MIRT2607078	hsa-miR-15b	CLIP-seq
MIRT2607079	hsa-miR-16	CLIP-seq
MIRT2607080	hsa-miR-195	CLIP-seq
MIRT2607081	hsa-miR-1972	CLIP-seq
MIRT2607082	hsa-miR-206	CLIP-seq
MIRT2607083	hsa-miR-2278	CLIP-seq
MIRT2607084	hsa-miR-2909	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT2607085	hsa-miR-3116	CLIP-seq
MIRT2607086	hsa-miR-3117-3p	CLIP-seq
MIRT2607087	hsa-miR-3118	CLIP-seq
MIRT2607088	hsa-miR-3158-3p	CLIP-seq
MIRT2607089	hsa-miR-3164	CLIP-seq
MIRT2607090	hsa-miR-3182	CLIP-seq
MIRT2607091	hsa-miR-3190	CLIP-seq
MIRT2607092	hsa-miR-3202	CLIP-seq
MIRT2607093	hsa-miR-330-3p	CLIP-seq
MIRT2607094	hsa-miR-33a	CLIP-seq
MIRT2607095	hsa-miR-33b	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT2607096	hsa-miR-3545-5p	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT2607097	hsa-miR-3673	CLIP-seq
MIRT2607098	hsa-miR-3911	CLIP-seq
MIRT2607099	hsa-miR-421	CLIP-seq
MIRT2607100	hsa-miR-424	CLIP-seq
MIRT2607101	hsa-miR-4260	CLIP-seq
MIRT2607102	hsa-miR-4421	CLIP-seq
MIRT2607103	hsa-miR-4422	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT2607104	hsa-miR-4436a	CLIP-seq
MIRT2607105	hsa-miR-4446-3p	CLIP-seq
MIRT2607106	hsa-miR-4488	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT2607107	hsa-miR-4533	CLIP-seq
MIRT2607108	hsa-miR-4650-5p	CLIP-seq
MIRT2607109	hsa-miR-4665-5p	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT2607110	hsa-miR-4697-5p	CLIP-seq
MIRT2607111	hsa-miR-4709-3p	CLIP-seq
MIRT2607112	hsa-miR-4709-5p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2607113	hsa-miR-4760-3p	CLIP-seq
MIRT2607114	hsa-miR-4772-5p	CLIP-seq
MIRT2607115	hsa-miR-4777-5p	CLIP-seq
MIRT2607116	hsa-miR-4778-5p	CLIP-seq
MIRT2607117	hsa-miR-4782-5p	CLIP-seq
MIRT2607118	hsa-miR-4796-5p	CLIP-seq
MIRT2607119	hsa-miR-485-5p	CLIP-seq
MIRT2607120	hsa-miR-492	CLIP-seq
MIRT2607121	hsa-miR-497	CLIP-seq
MIRT2607122	hsa-miR-516b	CLIP-seq
MIRT2607123	hsa-miR-518d-5p	CLIP-seq
MIRT2607124	hsa-miR-519b-5p	CLIP-seq
MIRT2607125	hsa-miR-519c-5p	CLIP-seq
MIRT2607126	hsa-miR-520c-5p	CLIP-seq
MIRT2607127	hsa-miR-520d-5p	CLIP-seq
MIRT2607128	hsa-miR-524-5p	CLIP-seq
MIRT2607129	hsa-miR-526a	CLIP-seq
MIRT2607130	hsa-miR-532-5p	CLIP-seq
MIRT2607131	hsa-miR-545	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT2607132	hsa-miR-579	CLIP-seq
MIRT2607133	hsa-miR-613	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT2607134	hsa-miR-644	CLIP-seq
MIRT2607135	hsa-miR-661	CLIP-seq
MIRT2607136	hsa-miR-9	CLIP-seq
MIRT2607069	hsa-miR-1	CLIP-seq
MIRT2607071	hsa-miR-1254	CLIP-seq
MIRT2607072	hsa-miR-1275	CLIP-seq
MIRT2607073	hsa-miR-1283	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT2607075	hsa-miR-134	CLIP-seq
MIRT2607076	hsa-miR-147	CLIP-seq
MIRT2607077	hsa-miR-15a	CLIP-seq
MIRT2607078	hsa-miR-15b	CLIP-seq
MIRT2607079	hsa-miR-16	CLIP-seq
MIRT2607080	hsa-miR-195	CLIP-seq
MIRT2607082	hsa-miR-206	CLIP-seq
MIRT2607083	hsa-miR-2278	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT2607085	hsa-miR-3116	CLIP-seq
MIRT2607087	hsa-miR-3118	CLIP-seq
MIRT2607089	hsa-miR-3164	CLIP-seq
MIRT2607091	hsa-miR-3190	CLIP-seq
MIRT2607092	hsa-miR-3202	CLIP-seq
MIRT2607093	hsa-miR-330-3p	CLIP-seq
MIRT2607094	hsa-miR-33a	CLIP-seq
MIRT2607095	hsa-miR-33b	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT2607097	hsa-miR-3673	CLIP-seq
MIRT2607098	hsa-miR-3911	CLIP-seq
MIRT2607100	hsa-miR-424	CLIP-seq
MIRT2607101	hsa-miR-4260	CLIP-seq
MIRT2689278	hsa-miR-4276	CLIP-seq
MIRT2607102	hsa-miR-4421	CLIP-seq
MIRT2607103	hsa-miR-4422	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT2607104	hsa-miR-4436a	CLIP-seq
MIRT2607106	hsa-miR-4488	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT2607107	hsa-miR-4533	CLIP-seq
MIRT2607109	hsa-miR-4665-5p	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT2607110	hsa-miR-4697-5p	CLIP-seq
MIRT2607111	hsa-miR-4709-3p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2607113	hsa-miR-4760-3p	CLIP-seq
MIRT2607115	hsa-miR-4777-5p	CLIP-seq
MIRT2607116	hsa-miR-4778-5p	CLIP-seq
MIRT2607118	hsa-miR-4796-5p	CLIP-seq
MIRT2607119	hsa-miR-485-5p	CLIP-seq
MIRT2607120	hsa-miR-492	CLIP-seq
MIRT2689279	hsa-miR-494	CLIP-seq
MIRT2607121	hsa-miR-497	CLIP-seq
MIRT2607123	hsa-miR-518d-5p	CLIP-seq
MIRT2607124	hsa-miR-519b-5p	CLIP-seq
MIRT2607125	hsa-miR-519c-5p	CLIP-seq
MIRT2607126	hsa-miR-520c-5p	CLIP-seq
MIRT2607127	hsa-miR-520d-5p	CLIP-seq
MIRT2607128	hsa-miR-524-5p	CLIP-seq
MIRT2607129	hsa-miR-526a	CLIP-seq
MIRT2607130	hsa-miR-532-5p	CLIP-seq
MIRT2607131	hsa-miR-545	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT2607133	hsa-miR-613	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT2607134	hsa-miR-644	CLIP-seq
MIRT2607135	hsa-miR-661	CLIP-seq
MIRT2607136	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	9705271
GO:0000019	Process	Regulation of mitotic recombination	IDA	8756642
GO:0000722	Process	Telomere maintenance via recombination	IBA	21873635
GO:0000723	Process	Telomere maintenance	TAS	10888888
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS
GO:0000729	Process	DNA double-strand break processing	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	10888888
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000794	Component	Condensed nuclear chromosome	IBA	21873635
GO:0003677	Function	DNA binding	IDA	15790808
GO:0003678	Function	DNA helicase activity	IMP	15790808
GO:0003691	Function	Double-stranded telomeric DNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11096100, 18716619, 24534091, 24651726, 27568553
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	IDA	9705271
GO:0006302	Process	Double-strand break repair	IBA	21873635
GO:0006302	Process	Double-strand break repair	IMP	9590181
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IDA	9705271
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	17500065
GO:0007004	Process	Telomere maintenance via telomerase	IBA	21873635
GO:0007004	Process	Telomere maintenance via telomerase	IDA	9705271
GO:0007131	Process	Reciprocal meiotic recombination	TAS	8756642
GO:0008408	Function	3'-5' exonuclease activity	IDA	9705271
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	12152085
GO:0030870	Component	Mre11 complex	IBA	21873635
GO:0030870	Component	Mre11 complex	IDA	9590181, 19151086
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	15790808
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0032508	Process	DNA duplex unwinding	IBA	21873635
GO:0032508	Process	DNA duplex unwinding	IMP	15790808
GO:0033674	Process	Positive regulation of kinase activity	IDA	15790808
GO:0035861	Component	Site of double-strand break	IDA	15916964
GO:0042802	Function	Identical protein binding	IPI	28134932
GO:0043047	Function	Single-stranded telomeric DNA binding	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0051880	Function	G-quadruplex DNA binding	IBA	21873635
GO:0070192	Process	Chromosome organization involved in meiotic cell cycle	IBA	21873635
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IBA	21873635
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904354	Process	Negative regulation of telomere capping	IDA	17694070

Other IDs

• MIM: 604040
• HGNC: 9816
• e!Ensembl: ENSG00000113522

Protein

• UniProt ID: Q92878
• Protein name: DNA repair protein RAD50 (hRAD50) (EC 3.6.-.-)
• Protein function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28134932, PubMed:28867292,
• PDB: 5GOX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13476	AAA_23	6 → 235	AAA domain	Domain
  PF04423	Rad50_zn_hook	659 → 712	Rad50 zinc hook motif	Motif
  PF13558	SbcCD_C	1174 → 1251		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO:0000269|PubMed:8756642}.
• Sequence:

  MSRIEKMSILGVRSFGIEDKDKQIITFFSPLTILVGPNGAGKTTIIECLKYICTGDFPPG
  TKGNTFVHDPKVAQETDVRAQIRLQFRDVNGELIAVQRSMVCTQKSKKTEFKTLEGVITR
  TKHGEKVSLSSKCAEIDREMISSLGVSKAVLNNVIFCHQEDSNWPLSEGKALKQKFDEIF
  SATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRDQITSKEAQLTSSKEI
  VKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGT
  DEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRH
  QEHIRARDSLIQSLATQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAE
  KETLKQKQIDEIRDKKTGLGRIIELKSEILSKKQNELKNVKYELQQLEGSSDRILELDQE
  LIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEMEQLNHHTTTRTQMEM
  LTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKE
  LASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLA
  GATAVYSQFITQLTDENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELK
  KKEKRRDEMLGLVPMRQSIIDLKEKEIPELRNKLQNVNRDIQRLKNDIEEQETLLGTIMP
  EEESAKVCLTDVTIMERFQMELKDVERKIAQQAAKLQGIDLDRTVQQVNQEKQEKQHKLD
  TVSSKIELNRKLIQDQQEQIQHLKSTTNELKSEKLQISTNLQRRQQLEEQTVELSTEVQS
  LYREIKDAKEQVSPLETTLEKFQQEKEELINKKNTSNKIAQDKLNDIKEKVKNIHGYMKD
  IENYIQDGKDDYKKQKETELNKVIAQLSECEKHKEKINEDMRLMRQDIDTQKIQERWLQD
  NLTLRKRNEELKEVEEERKQHLKEMGQMQVLQMKSEHQKLEENIDNIKRNHNLALGRQKG
  YEEEIIHFKKELREPQFRDAEEKYREMMIVMRTTELVNKDLDIYYKTLDQAIMKFHSMKM
  EEINKIIRDLWRSTYRGQDIEYIEIRSDADENVSASDKRRNYNYRVVMLKGDTALDMRGR
  CSAGQKVLASLIIRLALAETFCLNCGIIALDEPTTNLDRENIESLAHALVEIIKSRSQQR
  NFQLLVITHDEDFVELLGRSEYVEKFYRIKKNIDQCSEIVKCSVSSLGFNVH

• Sequence length: 1312

Pathways

KEGG:

Homologous recombination
Non-homologous end-joining
Cellular senescence

Reactome:

DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Breast Cancer, Familial	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	15150571, 14684699, 16474176, 16385572
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25574825, 23886662
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
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
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
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Nijmegen breakage syndrome-like disorder	Nijmegen Breakage Syndrome-Like Disorder, Nijmegen breakage syndrome-like disorder	rs121912628, rs397507177, rs104895046, rs587780150, rs587780154, rs377260382, rs587781904, rs587781930, rs587782078, rs587782090, rs587782543, rs587782895, rs786203485, rs760146707, rs764122619, rs786203655, rs373428259, rs587781327, rs786201789, rs786201897, rs786203805, rs786202187, rs750586158, rs778555849, rs149201802, rs748086984, rs876659255, rs876659005, rs876660957, rs587780147, rs876660364, rs368980595, rs775069541, rs762648843, rs745797941, rs761168506, rs876658770, rs749466673, rs878854799, rs1060501941, rs1060501970, rs766315644, rs1060501936, rs1458900761, rs587781454, rs995265408, rs1060501954, rs1060501942, rs377429225, rs772468452, rs1554099888, rs765484171, rs1554101314, rs1247689593, rs1236278956, rs764968413, rs587781742, rs1554099106, rs142947311, rs1554098250, rs748536322, rs773761143, rs765975825, rs1554099320, rs761837416, rs1554099776, rs1554100940, rs1339714611, rs1554096791, rs1561634357, rs1561635887, rs753950483, rs1561647410, rs1561639636, rs1561661777, rs758641567, rs1580997203, rs1580987798, rs1580987375, rs1750646869, rs757261714, rs1581004859, rs1751171297	28376765, 26689913, 21778326, 26824983, 26786923, 25452441, 19409520, 16385572, 18281469, 26822949, 14684699, 16474176
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25574825

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma, Childhood asthma		20159242, 21907864, 30929738, 24241537, 27611488, 29785011, 20860503, 27182965	ClinVar, GWAS
Coronary heart disease	Coronary heart disease		21966275	ClinVar
Breast Carcinoma	hereditary breast carcinoma			GenCC
Ovarian cancer	familial ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth		GenCC, CBGDA
Eosinophilia	Eosinophilia			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	19866438
Adenocarcinoma Mucinous	Associate	26705231
Adenomatous Polyposis Coli	Associate	39519399
Alternating hemiplegia of childhood	Associate	17693401
Arrest of spermatogenesis	Associate	31983050
Asthma	Associate	18846228, 20159242, 22694930, 27050946
Ataxia Telangiectasia	Associate	21757780
Ataxia Telangiectasia	Inhibit	9315668
Ataxia Telangiectasia Like Disorder	Associate	12966088
Atherosclerosis	Associate	26821299
ATR X syndrome	Associate	23329831
Autistic Disorder	Associate	30755392
Bloom Syndrome	Associate	11916980
Bone Marrow Diseases	Associate	26366868
Bone Marrow Failure Disorders	Associate	33378670
Breast Neoplasms	Associate	12433983, 16474176, 17292821, 19383352, 21356067, 21599985, 21898661, 23181716, 24642965, 24884479, 24894818, 27782108, 28241424, 28419251, 28424414, 28891274, 29271107, 31872854, 33090711, 34299313, 35312250, 36011273, 36315097, 36315513, 39684352
Calcinosis Cutis	Associate	24934408
Carcinoma Hepatocellular	Associate	24020493, 35853969, 38320622
Carcinoma Ovarian Epithelial	Associate	28073364, 30640700
Carcinoma Small Cell	Associate	33632300
Chromosome Aberrations	Associate	24642965
Chromosome Breakage	Associate	36833239
Colonic Neoplasms	Associate	33318301
Colorectal Neoplasms	Associate	11429044, 14507650, 18219098
Dermatitis Atopic	Associate	18846228, 28364410
Developmental Defects of Enamel	Associate	33378670
Developmental Disabilities	Associate	30755392
Disease	Associate	21599985
DNA Virus Infections	Associate	33090711
Drug Related Side Effects and Adverse Reactions	Associate	24642965, 28376765
Facial Dysmorphism with Multiple Malformations	Associate	32212377
Fanconi Anemia	Associate	15199173, 17524422, 31537797
Gallbladder Neoplasms	Associate	19866438, 33328484
Growth Disorders	Associate	32212377
HAIR AN syndrome	Inhibit	32197467
Head and Neck Neoplasms	Associate	24079363
Idiopathic Noncirrhotic Portal Hypertension	Associate	24020493
Immune System Diseases	Associate	30755392
Infertility Male	Associate	31983050
Inflammation	Stimulate	18219098
Kaposiform Hemangioendothelioma	Associate	31887709
Leiomyoma	Inhibit	30478352
Leukemia	Associate	24093751
Leukemia Lymphocytic Chronic B Cell	Inhibit	18077792
Leukemia Myeloid	Associate	8756642
Leukemia Myeloid Acute	Associate	24093751, 30480765
Liver Diseases Alcoholic	Associate	24020493
Lupus Erythematosus Systemic	Associate	27492607
Lymphoma B Cell Marginal Zone	Associate	19917125
Lymphoma Large B Cell Diffuse	Associate	19917125
Lymphoma Non Hodgkin	Associate	19917125, 20813000
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	24803180, 31983050
Medulloblastoma	Associate	28376765
Melanoma	Associate	22725639, 29975213
Mesothelioma Malignant	Associate	30700254
Microcephaly	Associate	32212377
Microsatellite Instability	Associate	11429044, 33318301, 36833239
Multiple Myeloma	Associate	20148879, 26366868
Neoplasm Metastasis	Associate	37474724
Neoplasms	Associate	15150571, 16025146, 16207477, 16474176, 18219098, 19383352, 20679231, 21777411, 23181716, 24642965, 24934408, 26705231, 26824983, 27016230, 29975213, 30176843, 30620386, 30755392, 31794323, 31872854, 31937788, 32341333, 33090711, 35312250, 36011273, 37373240, 40282418
Neoplastic Syndromes Hereditary	Associate	35501303, 40282418
Nerve Degeneration	Associate	17706468
Neural Tube Defects	Associate	8756642
Neurologic Manifestations	Associate	34068194
Nijmegen Breakage Syndrome	Associate	10346816, 11448772, 23762398, 32212377, 9590181
Nijmegen Breakage Syndrome Like Disorder	Associate	19409520, 32212377
Non Muscle Invasive Bladder Neoplasms	Associate	35833951
Ovarian Neoplasms	Associate	27016230, 34734468, 36729997
Pancreatic Neoplasms	Associate	29961768, 34034685
Personality Disorders	Stimulate	34734468
Polycystic Ovary Syndrome	Associate	26416764
Polycythemia Vera	Associate	37024097
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24093751
Progeria	Associate	17848622
Prostatic Neoplasms	Associate	21777411
Prostatic Neoplasms Castration Resistant	Associate	32606146
Prostatitis	Associate	16207477
Rectal Neoplasms	Associate	30176843
Sarcoma	Associate	37536918
Sertoli Cell Only Syndrome	Associate	31983050
Small Cell Lung Carcinoma	Associate	24934408, 25185187
Stomach Neoplasms	Associate	36970058, 40282418
Triple Negative Breast Neoplasms	Associate	33090711
Tufted angioma	Associate	31887709
Turcot syndrome	Associate	16025146
Urinary Bladder Neoplasms	Associate	37474724, 40571318
Uterine Cervical Dysplasia	Associate	37217238
Uterine Cervical Neoplasms	Associate	31488179