DENND5A (DENN domain containing 5A)

Gene

• Entrez ID: 23258
• Gene name: DENN domain containing 5A
• Gene symbol: DENND5A
• Synonyms (NCBI Gene): DEE49, EIEE49, RAB6IP1
• Disease Acronyms (UniProt): DEE49
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519307	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519308	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519310	G>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1057519563	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057519564	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1590275695	AC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050288	hsa-miR-25-3p	CLASH	23622248
MIRT049154	hsa-miR-92a-3p	CLASH	23622248
MIRT047785	hsa-miR-30d-5p	CLASH	23622248
MIRT932596	hsa-miR-1183	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT932601	hsa-miR-3137	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT932603	hsa-miR-4477a	CLIP-seq
MIRT932604	hsa-miR-4640-5p	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT932606	hsa-miR-4726-5p	CLIP-seq
MIRT932607	hsa-miR-545	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932610	hsa-miR-618	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976134	hsa-miR-1227	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT1976137	hsa-miR-4261	CLIP-seq
MIRT1976138	hsa-miR-4449	CLIP-seq
MIRT1976139	hsa-miR-4496	CLIP-seq
MIRT1976140	hsa-miR-4536	CLIP-seq
MIRT1976141	hsa-miR-4738-3p	CLIP-seq
MIRT1976142	hsa-miR-4803	CLIP-seq
MIRT1976143	hsa-miR-494	CLIP-seq
MIRT1976144	hsa-miR-548g	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq
MIRT932596	hsa-miR-1183	CLIP-seq
MIRT1976134	hsa-miR-1227	CLIP-seq
MIRT2211528	hsa-miR-1271	CLIP-seq
MIRT2211529	hsa-miR-182	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT2211532	hsa-miR-2114	CLIP-seq
MIRT2211533	hsa-miR-23a	CLIP-seq
MIRT2211534	hsa-miR-23b	CLIP-seq
MIRT2211535	hsa-miR-23c	CLIP-seq
MIRT932601	hsa-miR-3137	CLIP-seq
MIRT2211536	hsa-miR-3174	CLIP-seq
MIRT2211537	hsa-miR-3182	CLIP-seq
MIRT2211538	hsa-miR-34c-3p	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2211540	hsa-miR-3682-5p	CLIP-seq
MIRT2211541	hsa-miR-425	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT2211544	hsa-miR-4307	CLIP-seq
MIRT932603	hsa-miR-4477a	CLIP-seq
MIRT1976140	hsa-miR-4536	CLIP-seq
MIRT2211545	hsa-miR-4639-3p	CLIP-seq
MIRT932604	hsa-miR-4640-5p	CLIP-seq
MIRT2211546	hsa-miR-4677-3p	CLIP-seq
MIRT2211547	hsa-miR-4679	CLIP-seq
MIRT2211548	hsa-miR-4717-3p	CLIP-seq
MIRT2211549	hsa-miR-4720-3p	CLIP-seq
MIRT932606	hsa-miR-4726-5p	CLIP-seq
MIRT1976141	hsa-miR-4738-3p	CLIP-seq
MIRT1976144	hsa-miR-548g	CLIP-seq
MIRT2211550	hsa-miR-564	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2211552	hsa-miR-96	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515234	hsa-miR-1228	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT2515235	hsa-miR-1321	CLIP-seq
MIRT2515236	hsa-miR-147	CLIP-seq
MIRT2515237	hsa-miR-1471	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT2515238	hsa-miR-1910	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT2515239	hsa-miR-2115	CLIP-seq
MIRT2515240	hsa-miR-24	CLIP-seq
MIRT2515241	hsa-miR-3064-3p	CLIP-seq
MIRT2515242	hsa-miR-3155	CLIP-seq
MIRT2515243	hsa-miR-3155b	CLIP-seq
MIRT2515244	hsa-miR-3199	CLIP-seq
MIRT2515245	hsa-miR-338-3p	CLIP-seq
MIRT2515246	hsa-miR-3613-3p	CLIP-seq
MIRT2515247	hsa-miR-3662	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2515248	hsa-miR-3675-5p	CLIP-seq
MIRT2515249	hsa-miR-3911	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT2515250	hsa-miR-4264	CLIP-seq
MIRT2515251	hsa-miR-4270	CLIP-seq
MIRT2515252	hsa-miR-4283	CLIP-seq
MIRT2515253	hsa-miR-4285	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT2515254	hsa-miR-4419a	CLIP-seq
MIRT2515255	hsa-miR-4438	CLIP-seq
MIRT2515256	hsa-miR-4441	CLIP-seq
MIRT2515257	hsa-miR-4489	CLIP-seq
MIRT2515258	hsa-miR-4510	CLIP-seq
MIRT2515259	hsa-miR-4530	CLIP-seq
MIRT2515260	hsa-miR-455-3p	CLIP-seq
MIRT2515261	hsa-miR-4648	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT2515262	hsa-miR-4685-5p	CLIP-seq
MIRT2515263	hsa-miR-4701-5p	CLIP-seq
MIRT2515264	hsa-miR-4728-5p	CLIP-seq
MIRT2515265	hsa-miR-4739	CLIP-seq
MIRT2515266	hsa-miR-4740-5p	CLIP-seq
MIRT2515267	hsa-miR-4756-5p	CLIP-seq
MIRT2515268	hsa-miR-484	CLIP-seq
MIRT2515269	hsa-miR-509-3p	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT2515270	hsa-miR-588	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515271	hsa-miR-644	CLIP-seq
MIRT2515272	hsa-miR-663b	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq
MIRT2515234	hsa-miR-1228	CLIP-seq
MIRT932597	hsa-miR-1250	CLIP-seq
MIRT2515235	hsa-miR-1321	CLIP-seq
MIRT2515236	hsa-miR-147	CLIP-seq
MIRT2515237	hsa-miR-1471	CLIP-seq
MIRT932598	hsa-miR-188-5p	CLIP-seq
MIRT2515238	hsa-miR-1910	CLIP-seq
MIRT2211530	hsa-miR-200b	CLIP-seq
MIRT2211531	hsa-miR-200c	CLIP-seq
MIRT932599	hsa-miR-204	CLIP-seq
MIRT1976135	hsa-miR-2053	CLIP-seq
MIRT932600	hsa-miR-211	CLIP-seq
MIRT2515240	hsa-miR-24	CLIP-seq
MIRT2515241	hsa-miR-3064-3p	CLIP-seq
MIRT2515242	hsa-miR-3155	CLIP-seq
MIRT2515243	hsa-miR-3155b	CLIP-seq
MIRT2211539	hsa-miR-3667-3p	CLIP-seq
MIRT2515248	hsa-miR-3675-5p	CLIP-seq
MIRT2515249	hsa-miR-3911	CLIP-seq
MIRT1976136	hsa-miR-409-3p	CLIP-seq
MIRT2515250	hsa-miR-4264	CLIP-seq
MIRT2515251	hsa-miR-4270	CLIP-seq
MIRT2515252	hsa-miR-4283	CLIP-seq
MIRT2211542	hsa-miR-429	CLIP-seq
MIRT2211543	hsa-miR-4304	CLIP-seq
MIRT932602	hsa-miR-4327	CLIP-seq
MIRT2515255	hsa-miR-4438	CLIP-seq
MIRT2515256	hsa-miR-4441	CLIP-seq
MIRT2515257	hsa-miR-4489	CLIP-seq
MIRT2515260	hsa-miR-455-3p	CLIP-seq
MIRT932605	hsa-miR-4668-3p	CLIP-seq
MIRT2515262	hsa-miR-4685-5p	CLIP-seq
MIRT2515265	hsa-miR-4739	CLIP-seq
MIRT2515267	hsa-miR-4756-5p	CLIP-seq
MIRT2515268	hsa-miR-484	CLIP-seq
MIRT2515269	hsa-miR-509-3p	CLIP-seq
MIRT932608	hsa-miR-548c-3p	CLIP-seq
MIRT1976145	hsa-miR-569	CLIP-seq
MIRT932609	hsa-miR-605	CLIP-seq
MIRT932611	hsa-miR-636	CLIP-seq
MIRT2211551	hsa-miR-642b	CLIP-seq
MIRT2515271	hsa-miR-644	CLIP-seq
MIRT2515272	hsa-miR-663b	CLIP-seq
MIRT932612	hsa-miR-877	CLIP-seq
MIRT1976146	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005802	Component	Trans-Golgi network	IDA	19619496
GO:0005829	Component	Cytosol	TAS
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0030904	Component	Retromer complex	IDA	19619496
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	19619496
GO:0050790	Process	Regulation of catalytic activity	IEA

Other IDs

• MIM: 617278
• HGNC: 19344
• e!Ensembl: ENSG00000184014

Protein

• UniProt ID: Q6IQ26
• Protein name: DENN domain-containing protein 5A (Rab6-interacting protein 1) (Rab6IP1)
• Protein function: Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03456	uDENN	75 → 137	uDENN domain	Domain
  PF02141	DENN	202 → 390	DENN (AEX-3) domain	Family
  PF03455	dDENN	555 → 607	dDENN domain	Domain
  PF02759	RUN	795 → 947	RUN domain	Family
  PF01477	PLAT	956 → 1062	PLAT/LH2 domain	Domain
  PF02759	RUN	1142 → 1281	RUN domain	Family

• Sequence:

  MSGGGGGGGSAPSRFADYFVICGLDTETGLEPDELSALCQYIQASKARDGASPFISSTTE
  GENFEQTPLRRTFKSKVLARYPENVEWNPFDQDAVGMLCMPKGLAFKTQADPREPQFHAF
  IITREDGSRTFGFALTFYEEVTSKQICSAMQTLYHMHNAEYDVLHAPPADDRDQSSMEDG
  EDTPVTKLQRFNSYDISRDTLYVSKCICLITPMSFMKACRSVLEQLHQAVTSPQPPPLPL
  ESYIYNVLYEVPLPPPGRSLKFSGVYGPIICQRPSTNELPLFDFPVKEVFELLGVENVFQ
  LFTCALLEFQILLYSQHYQRLMTVAETITALMFPFQWQHVYVPILPASLLHFLDAPVPYL
  MGLHSNGLDDRSKLELPQEANLCFVDIDNHFIELPEDLPQFPNKLEFVQEVSEILMAFGI
  PPEGNLHCSESASKLKRLRASELVSDKRNGNIAGSPLHSYELLKENETIARLQALVKRTG
  VSLEKLEVREDPSSNKDLKVQCDEEELRIYQLNIQIREVFANRFTQMFADYEVFVIQPSQ
  DKESWFTNREQMQNFDKASFLSDQPEPYLPFLSRFLETQMFASFIDNKIMCHDDDDKDPV
  LRVFDSRVDKIRLLNVRTPTLRTSMYQKCTTVDEAEKAIELRLAKIDHTAIHPHLLDMKI
  GQGKYEPGFFPKLQSDVLSTGPASNKWTKRNAPAQWRRKDRQKQHTEHLRLDNDQREKYI
  QEARTMGSTIRQPKLSNLSPSVIAQTNWKFVEGLLKECRNKTKRMLVEKMGREAVELGHG
  EVNITGVEENTLIASLCDLLERIWSHGLQVKQGKSALWSHLLHYQDNRQRKLTSGSLSTS
  GILLDSERRKSDASSLMPPLRISLIQDMRHIQNIGEIKTDVGKARAWVRLSMEKKLLSRH
  LKQLLSDHELTKKLYKRYAFLRCDDEKEQFLYHLLSFNAVDYFCFTNVFTTILIPYHILI
  VPSKKLGGSMFTANPWICISGELGETQIMQIPRNVLEMTFECQNLGKLTTVQIGHDNSGL
  YAKWLVEYVMVRNEITGHTYKFPCGRWLGKGMDDGSLERILVGELLTSQPEVDERPCRTP
  PLQQSPSVIRRLVTISPNNKPKLNTGQIQESIGEAVNGIVKHFHKPEKERGSLTLLLCGE
  CGLVSALEQAFQHGFKSPRLFKNVFIWDFLEKAQTYYETLEKNEVVPEENWHTRARNFCR
  FVTAINNTPRNIGKDGKFQMLVCLGARDHLLHHWIALLADCPITAHMYEDVALIKDHTLV
  NSLIRVLQTLQEFNITLETSLVKGIDI

• Sequence length: 1287

Pathways

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Profound 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
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	27431290, 27866705
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

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease			GWAS