RSPO3 (R-spondin 3)

Gene

• Entrez ID: 84870
• Gene name: R-spondin 3
• Gene symbol: RSPO3
• Synonyms: CRISTIN1, PWTSR, THSD2
• Chromosome: 6
• Chromosome location: 6q22.33
• Summary: This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell g

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017040	hsa-miR-335-5p	Microarray	18185580
MIRT1321411	hsa-miR-3163	CLIP-seq
MIRT1321412	hsa-miR-3619-3p	CLIP-seq
MIRT1321413	hsa-miR-4503	CLIP-seq
MIRT1321414	hsa-miR-4659a-3p	CLIP-seq
MIRT1321415	hsa-miR-4659b-3p	CLIP-seq
MIRT1321416	hsa-miR-4668-3p	CLIP-seq
MIRT1321417	hsa-miR-4776-5p	CLIP-seq
MIRT1321418	hsa-miR-4800-5p	CLIP-seq
MIRT1321419	hsa-miR-576-5p	CLIP-seq
MIRT2095428	hsa-miR-188-5p	CLIP-seq
MIRT2095429	hsa-miR-409-3p	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2319814	hsa-miR-1252	CLIP-seq
MIRT2319815	hsa-miR-1265	CLIP-seq
MIRT2319816	hsa-miR-141	CLIP-seq
MIRT2319817	hsa-miR-200a	CLIP-seq
MIRT2319818	hsa-miR-3121-5p	CLIP-seq
MIRT2615614	hsa-miR-103a	CLIP-seq
MIRT2615615	hsa-miR-107	CLIP-seq
MIRT2615616	hsa-miR-125a-3p	CLIP-seq
MIRT2615617	hsa-miR-1270	CLIP-seq
MIRT2615618	hsa-miR-128	CLIP-seq
MIRT2615619	hsa-miR-1283	CLIP-seq
MIRT2615620	hsa-miR-1285	CLIP-seq
MIRT2615621	hsa-miR-1343	CLIP-seq
MIRT2615622	hsa-miR-15a	CLIP-seq
MIRT2615623	hsa-miR-15b	CLIP-seq
MIRT2615624	hsa-miR-16	CLIP-seq
MIRT2615625	hsa-miR-194	CLIP-seq
MIRT2615626	hsa-miR-195	CLIP-seq
MIRT2615627	hsa-miR-205	CLIP-seq
MIRT2615628	hsa-miR-216a	CLIP-seq
MIRT2615629	hsa-miR-216b	CLIP-seq
MIRT2615630	hsa-miR-2278	CLIP-seq
MIRT2615631	hsa-miR-27a	CLIP-seq
MIRT2615632	hsa-miR-27b	CLIP-seq
MIRT2615633	hsa-miR-3187-5p	CLIP-seq
MIRT2615634	hsa-miR-338-5p	CLIP-seq
MIRT2615635	hsa-miR-3618	CLIP-seq
MIRT2615636	hsa-miR-3663-3p	CLIP-seq
MIRT2615637	hsa-miR-376c	CLIP-seq
MIRT2615638	hsa-miR-3925-3p	CLIP-seq
MIRT2615639	hsa-miR-3929	CLIP-seq
MIRT2615640	hsa-miR-3936	CLIP-seq
MIRT2615641	hsa-miR-3945	CLIP-seq
MIRT2615642	hsa-miR-410	CLIP-seq
MIRT2615643	hsa-miR-424	CLIP-seq
MIRT2615644	hsa-miR-4253	CLIP-seq
MIRT2615645	hsa-miR-4267	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2615646	hsa-miR-4328	CLIP-seq
MIRT2615647	hsa-miR-4419b	CLIP-seq
MIRT2615648	hsa-miR-4422	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2615649	hsa-miR-4473	CLIP-seq
MIRT2615650	hsa-miR-4474-5p	CLIP-seq
MIRT2615651	hsa-miR-4478	CLIP-seq
MIRT2615652	hsa-miR-4524	CLIP-seq
MIRT2615653	hsa-miR-4531	CLIP-seq
MIRT2615654	hsa-miR-4663	CLIP-seq
MIRT2615655	hsa-miR-4803	CLIP-seq
MIRT2615656	hsa-miR-485-5p	CLIP-seq
MIRT2615657	hsa-miR-490-5p	CLIP-seq
MIRT2615658	hsa-miR-497	CLIP-seq
MIRT2615659	hsa-miR-500a	CLIP-seq
MIRT2615660	hsa-miR-503	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2615661	hsa-miR-512-3p	CLIP-seq
MIRT2615662	hsa-miR-513a-5p	CLIP-seq
MIRT2615663	hsa-miR-520f	CLIP-seq
MIRT2615664	hsa-miR-548n	CLIP-seq
MIRT2615665	hsa-miR-552	CLIP-seq
MIRT2615666	hsa-miR-563	CLIP-seq
MIRT2615667	hsa-miR-612	CLIP-seq
MIRT2615668	hsa-miR-620	CLIP-seq
MIRT2615669	hsa-miR-627	CLIP-seq
MIRT2615670	hsa-miR-646	CLIP-seq
MIRT2615671	hsa-miR-766	CLIP-seq
MIRT2615672	hsa-miR-769-5p	CLIP-seq
MIRT2615673	hsa-miR-924	CLIP-seq
MIRT2615614	hsa-miR-103a	CLIP-seq
MIRT2615615	hsa-miR-107	CLIP-seq
MIRT2615616	hsa-miR-125a-3p	CLIP-seq
MIRT2615617	hsa-miR-1270	CLIP-seq
MIRT2615618	hsa-miR-128	CLIP-seq
MIRT2615619	hsa-miR-1283	CLIP-seq
MIRT2615620	hsa-miR-1285	CLIP-seq
MIRT2615621	hsa-miR-1343	CLIP-seq
MIRT2615622	hsa-miR-15a	CLIP-seq
MIRT2615623	hsa-miR-15b	CLIP-seq
MIRT2615624	hsa-miR-16	CLIP-seq
MIRT2615625	hsa-miR-194	CLIP-seq
MIRT2615626	hsa-miR-195	CLIP-seq
MIRT2615627	hsa-miR-205	CLIP-seq
MIRT2615628	hsa-miR-216a	CLIP-seq
MIRT2615629	hsa-miR-216b	CLIP-seq
MIRT2615630	hsa-miR-2278	CLIP-seq
MIRT2615631	hsa-miR-27a	CLIP-seq
MIRT2615632	hsa-miR-27b	CLIP-seq
MIRT2615633	hsa-miR-3187-5p	CLIP-seq
MIRT2615634	hsa-miR-338-5p	CLIP-seq
MIRT2615635	hsa-miR-3618	CLIP-seq
MIRT2615636	hsa-miR-3663-3p	CLIP-seq
MIRT2615637	hsa-miR-376c	CLIP-seq
MIRT2615638	hsa-miR-3925-3p	CLIP-seq
MIRT2615639	hsa-miR-3929	CLIP-seq
MIRT2615640	hsa-miR-3936	CLIP-seq
MIRT2615641	hsa-miR-3945	CLIP-seq
MIRT2615642	hsa-miR-410	CLIP-seq
MIRT2615643	hsa-miR-424	CLIP-seq
MIRT2615644	hsa-miR-4253	CLIP-seq
MIRT2615645	hsa-miR-4267	CLIP-seq
MIRT2095430	hsa-miR-4269	CLIP-seq
MIRT2615646	hsa-miR-4328	CLIP-seq
MIRT2615647	hsa-miR-4419b	CLIP-seq
MIRT2615648	hsa-miR-4422	CLIP-seq
MIRT2095431	hsa-miR-4438	CLIP-seq
MIRT2615649	hsa-miR-4473	CLIP-seq
MIRT2615650	hsa-miR-4474-5p	CLIP-seq
MIRT2615651	hsa-miR-4478	CLIP-seq
MIRT2615652	hsa-miR-4524	CLIP-seq
MIRT2615653	hsa-miR-4531	CLIP-seq
MIRT2615654	hsa-miR-4663	CLIP-seq
MIRT2615655	hsa-miR-4803	CLIP-seq
MIRT2615656	hsa-miR-485-5p	CLIP-seq
MIRT2615657	hsa-miR-490-5p	CLIP-seq
MIRT2615658	hsa-miR-497	CLIP-seq
MIRT2615659	hsa-miR-500a	CLIP-seq
MIRT2615660	hsa-miR-503	CLIP-seq
MIRT2095432	hsa-miR-5095	CLIP-seq
MIRT2615661	hsa-miR-512-3p	CLIP-seq
MIRT2615662	hsa-miR-513a-5p	CLIP-seq
MIRT2615663	hsa-miR-520f	CLIP-seq
MIRT2615664	hsa-miR-548n	CLIP-seq
MIRT2615665	hsa-miR-552	CLIP-seq
MIRT2615666	hsa-miR-563	CLIP-seq
MIRT2615667	hsa-miR-612	CLIP-seq
MIRT2615668	hsa-miR-620	CLIP-seq
MIRT2615669	hsa-miR-627	CLIP-seq
MIRT2615670	hsa-miR-646	CLIP-seq
MIRT2615671	hsa-miR-766	CLIP-seq
MIRT2615672	hsa-miR-769-5p	CLIP-seq
MIRT2615673	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0005102	Function	Signaling receptor binding	IPI	22615920
GO:0005109	Function	Frizzled binding	IEA
GO:0005576	Component	Extracellular region	NAS	24431302
GO:0005576	Component	Extracellular region	TAS
GO:0008201	Function	Heparin binding	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	TAS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	29769720
GO:0030177	Process	Positive regulation of Wnt signaling pathway	NAS	24431302
GO:0060670	Process	Branching involved in labyrinthine layer morphogenesis	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:2000052	Process	Positive regulation of non-canonical Wnt signaling pathway	ISS
GO:2000096	Process	Positive regulation of Wnt signaling pathway, planar cell polarity pathway	TAS	24431302

Other IDs

• MIM: 610574
• HGNC: 20866
• e!Ensembl: ENSG00000146374

Protein

• UniProt ID: Q9BXY4
• Protein name: R-spondin-3 (Protein with TSP type-1 repeat) (hPWTSR) (Roof plate-specific spondin-3) (hRspo3) (Thrombospondin type-1 domain-containing protein 2)
• Protein function: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled recep
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15913	Furin-like_2	41 → 142	Furin-like repeat, cysteine-rich	Domain
  PF19028	TSP1_spondin	148 → 206	Spondin-like TSP1 domain	Domain

• Sequence:

  MHLRLISWLFIILNFMEYIGSQNASRGRRQRRMHPNVSQGCQGGCATCSDYNGCLSCKPR
  LFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYL
  HLGKCLDNCPEGLEANNHTMECVSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREII
  QHPSAKGNLCPPTNETRKCTVQRKKCQKGERGKKGRERKRKKPNKGESKEAIPDSKSLES
  SKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH

• Sequence length: 272

Pathways

KEGG:

Wnt signaling pathway

Reactome:

Regulation of FZD by ubiquitination
RUNX1 regulates transcription of genes involved in WNT signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	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	17468756
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, rs10520699, rs11852999, 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	17468756
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17468756

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		17468756
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	23128233, 26192919, 28067908
Liver carcinoma	Liver carcinoma		28284560