F5 (coagulation factor V)

Gene

• Entrez ID: 2153
• Gene name: Coagulation factor V
• Gene symbol: F5
• Synonyms: FVL, PCCF, RPRGL1, THPH2
• Chromosome: 1
• Chromosome location: 1q24.2
• Summary: This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a lig

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6007	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs6011	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs6025	C>A,T	Benign, pathogenic, conflicting-interpretations-of-pathogenicity, drug-response, risk-factor	Coding sequence variant, missense variant
rs6034	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs118203905	T>C	Pathogenic	Missense variant, coding sequence variant
rs118203906	C>G	Pathogenic	Missense variant, coding sequence variant
rs118203907	T>C	Pathogenic	Missense variant, coding sequence variant
rs118203908	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs118203909	G>A	Pathogenic	Stop gained, coding sequence variant
rs118203910	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs118203911	A>G	Pathogenic	Missense variant, coding sequence variant
rs118203912	C>A	Pathogenic	Stop gained, coding sequence variant
rs144979314	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149067268	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201510575	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201790842	G>A	Pathogenic	Coding sequence variant, stop gained
rs386834226	->T	Pathogenic	Coding sequence variant, frameshift variant
rs386834227	C>T	Pathogenic	Coding sequence variant, missense variant
rs386834228	C>T	Pathogenic	Coding sequence variant, missense variant
rs747006175	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754104059	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs754982088	->T	Pathogenic	Frameshift variant, coding sequence variant
rs757917115	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs757953549	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762646464	T>C,G	Likely-pathogenic	Splice acceptor variant
rs765982916	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs865947251	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs905672088	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1571574574	GTTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571575520	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571577365	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571578995	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571581722	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571586431	T>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020806	hsa-miR-155-5p	Proteomics	18668040
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT974596	hsa-miR-1321	CLIP-seq
MIRT974597	hsa-miR-147	CLIP-seq
MIRT974598	hsa-miR-184	CLIP-seq
MIRT974599	hsa-miR-1910	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974601	hsa-miR-1915	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974604	hsa-miR-2355-5p	CLIP-seq
MIRT974605	hsa-miR-3123	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974608	hsa-miR-3153	CLIP-seq
MIRT974609	hsa-miR-3162-5p	CLIP-seq
MIRT974610	hsa-miR-335	CLIP-seq
MIRT974611	hsa-miR-3691-3p	CLIP-seq
MIRT974612	hsa-miR-374a	CLIP-seq
MIRT974613	hsa-miR-374b	CLIP-seq
MIRT974614	hsa-miR-3911	CLIP-seq
MIRT974615	hsa-miR-3925-5p	CLIP-seq
MIRT974616	hsa-miR-3942-3p	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974620	hsa-miR-4480	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974624	hsa-miR-4703-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974626	hsa-miR-4722-3p	CLIP-seq
MIRT974627	hsa-miR-4739	CLIP-seq
MIRT974628	hsa-miR-4756-5p	CLIP-seq
MIRT974629	hsa-miR-4759	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT974631	hsa-miR-4775	CLIP-seq
MIRT974632	hsa-miR-4786-5p	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974634	hsa-miR-644	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT974636	hsa-miR-759	CLIP-seq
MIRT974597	hsa-miR-147	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974614	hsa-miR-3911	CLIP-seq
MIRT1988780	hsa-miR-4251	CLIP-seq
MIRT1988781	hsa-miR-4311	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT1988782	hsa-miR-4329	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT1988783	hsa-miR-4445	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT1988784	hsa-miR-4527	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974624	hsa-miR-4703-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT1988785	hsa-miR-4768-5p	CLIP-seq
MIRT974631	hsa-miR-4775	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974634	hsa-miR-644	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT2449049	hsa-miR-1287	CLIP-seq
MIRT2449050	hsa-miR-3135b	CLIP-seq
MIRT2449051	hsa-miR-3185	CLIP-seq
MIRT2449052	hsa-miR-7	CLIP-seq
MIRT974605	hsa-miR-3123	CLIP-seq
MIRT974615	hsa-miR-3925-5p	CLIP-seq
MIRT974616	hsa-miR-3942-3p	CLIP-seq
MIRT974636	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0002576	Process	Platelet degranulation	TAS
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2844223, 6323392, 9556620
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007596	Process	Blood coagulation	IBA	21873635
GO:0007596	Process	Blood coagulation	TAS
GO:0008015	Process	Blood circulation	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0031091	Component	Platelet alpha granule	IBA	21873635
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0048208	Process	COPII vesicle coating	TAS
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 612309
• HGNC: 3542
• e!Ensembl: ENSG00000198734

Protein

• UniProt ID: P12259
• Protein name: Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]
• Protein function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
• PDB: 1CZS, 1CZT, 1CZV, 3P6Z, 3P70, 3S9C, 7KVE, 7KVF, 7KXY, 7TPP, 8FDG, 8TN9, 9CTH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07732	Cu-oxidase_3	65 → 197	Multicopper oxidase	Domain
  PF06049	LSPR	1077 → 1085	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1185 → 1193	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1194 → 1202	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1203 → 1211	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1230 → 1238	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1239 → 1247	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1257 → 1265	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1275 → 1283	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1293 → 1301	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1302 → 1310	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1320 → 1328	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1338 → 1346	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1356 → 1364	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1374 → 1382	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1383 → 1391	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1410 → 1418	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1428 → 1436	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1437 → 1445	Coagulation Factor V LSPD Repeat	Repeat
  PF07732	Cu-oxidase_3	1641 → 1753	Multicopper oxidase	Domain
  PF00754	F5_F8_type_C	1922 → 2058	F5/8 type C domain	Domain
  PF00754	F5_F8_type_C	2081 → 2218	F5/8 type C domain	Domain

• Sequence:

  MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTS
  FKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYS
  KLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIE
  DFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNG
  TMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV
  GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVI
  WDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILG
  PIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGET
  YTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAA
  DIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL
  GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGT
  WMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEES
  DADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSP
  SNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPL
  QPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS
  PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQ
  DTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRL
  KKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPT
  DLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHS
  TSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
  QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSP
  ELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMP
  ISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELS
  QTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSP
  DISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND
  TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINS
  SRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVF
  RKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS
  SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDI
  HSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK
  KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLG
  VWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISD
  SQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQG
  AKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARY
  IRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR
  ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQ
  GVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFG
  CDIY

• Sequence length: 2224

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Post-translational protein phosphorylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Activated protein c resistance	Activated Protein C Resistance, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	rs118203912, rs118203911, rs1571577365	23188048, 26649017, 10666427, 7673148, 23900608, 11110695, 29179580, 3286010, 24523236, 16268462, 9616155, 21116184, 10391209, 28889200, 11858490, 10942390, 27090446, 16710414, 14617013, 9454742, 19486170, 7734374, 11583312, 7911872, 8164741, 11435304, 14695241
Bleeding disorder	Bleeding Disorder, East Texas Type, East Texas bleeding disorder	rs121918444, rs387906691, rs397514542, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948	23979162
Cerebral infarction	Cerebral Infarction	rs2230500
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	25200834
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Congenital factor v deficiency	Congenital factor V deficiency	rs118203907, rs757953549, rs754982088, rs757917115, rs765982916, rs1571575520
Factor v deficiency	Factor V deficiency	rs2101818393, rs773569662, rs2101829195, rs118203907, rs118203908, rs118203909, rs2101810760, rs118203910, rs387906286, rs387906287, rs1253799389, rs1294221028, rs1558461545, rs137852913, rs137852914, rs78289603, rs757953549, rs201790842, rs1571574574, rs765982916, rs1571575520, rs1571577365, rs1571578995, rs762646464, rs905672088, rs1572611822
Multiple polyposis syndrome	Adenomatous Polyposis Coli, Polyposis, Adenomatous Intestinal, Familial Intestinal Polyposis	rs137854568, rs137854569, rs387906231, rs137854574, rs137854575, rs387906234, rs587776520, rs1801155, rs387906236, rs137854580, rs387906239, rs397515732, rs397515733, rs397515734, rs397515735, rs587779352, rs587779353, rs398123118, rs587779780, rs587779783, rs587779794, rs62619935, rs587781330, rs587781392, rs587781694, rs587782557, rs587783035, rs727504420, rs376213437, rs730882135, rs786201291, rs786201856, rs775126020, rs768922431, rs121913332, rs863225362, rs863225365, rs863225371, rs863225319, rs863225347, rs756912930, rs876659517, rs754122018, rs876659280, rs121913331, rs758987855, rs863224281, rs879254032, rs879254283, rs886039507, rs1060503323, rs1060503366, rs1064793020, rs1064793535, rs1114167545, rs1114167551, rs1114167571, rs1554071602, rs1554072560, rs1554074738, rs1554079988, rs1554081906, rs1554084508, rs1554085102, rs1554085307, rs1554085382, rs1554085817, rs1060503288, rs1392778905, rs1554086084, rs1554086134, rs1554086138, rs1554087515, rs774847203, rs1554084454, rs1114167599, rs1554086340, rs1554084403, rs1554085084, rs777848503, rs1554086262, rs1554083981, rs1554084650, rs1064794163, rs1554086923, rs1554086823, rs1554085303, rs1554084159, rs1554081749, rs1554084512, rs1561576666, rs1561545947, rs1561588017, rs1561589459, rs1561598017, rs1561569606, rs1580685528, rs1580634573, rs1580649018, rs1561597691, rs79630786	25200834
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	9531249
Thrombophilia	Thrombophilia, Thrombophilia, hereditary	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916	9136971

Unknown
Disease name	Disease term	dbSNP ID	References
Blood coagulation disorders	Blood Coagulation Disorders		17721328
Brain infarction	Subcortical Infarction
Budd-chiari syndrome	Budd-Chiari Syndrome	rs6025, rs9332701, rs6009, rs369516642, rs9332607, rs9287090, rs1046712, rs1800594, rs6032, rs4525, rs6018, rs6031, rs6021, rs6024, rs6017, rs6016, rs6037, rs6036, rs6015, rs6033, rs9332578, rs6023, rs6022, rs6029, rs6019, rs6028, rs2187952, rs75764442, rs9332678, rs191866237, rs9332673, rs188490117, rs886045539, rs886045540, rs773618429, rs886045543, rs148772659, rs200865371, rs149092241, rs6026, rs6011, rs144262027, rs13306334, rs139573207, rs13306332, rs369276714, rs6005, rs144979314, rs201078171, rs758832130, rs748350385, rs148752831, rs143152035, rs145625079, rs886045534, rs72708013, rs886045536, rs544753372, rs72708017, rs886045537, rs181328696, rs186962725, rs757104503, rs35369423, rs759428783, rs6008, rs199568344, rs141589936, rs751749207, rs886045547, rs149048805, rs886045548, rs149067268, rs199507543, rs9332695, rs370739570, rs375739973, rs537081933, rs9332485, rs41272465, rs886045552, rs9332677, rs9332675, rs376103455, rs6427196, rs886045535, rs559071301, rs753366128, rs9332676, rs2040444, rs9332674, rs886045538, rs534748300, rs180742904, rs115882472, rs886045541, rs372005449, rs182566496, rs886045542, rs374815777, rs886045544, rs886045545, rs6010, rs886045546, rs763080313, rs200204656, rs559683767, rs543751483, rs373880789, rs6006, rs41272457, rs115148599, rs9332608, rs188882337, rs886045549, rs146408488, rs575766548, rs776949074, rs141768227, rs9332604, rs886045550, rs574610215, rs1557573, rs201510575, rs112333778, rs886045551, rs6020, rs781434840, rs200934105, rs116416322, rs543172813, rs529050943, rs1057515594, rs1038207109, rs1057515590, rs1057515597, rs139964957, rs1057515601, rs143509841, rs41272455, rs373172802, rs6007, rs6034, rs150104888, rs747456938, rs185294741	24755609, 26238013
Cerebral ischemia	Brain Ischemia		15534175
Cerebral sinovenous thrombosis	Cerebral sinovenous thrombosis
Cholecystitis	Cholecystitis
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Esophageal varix	Esophageal Varices
Hepatic vein thrombosis	Hepatic Vein Thrombosis		26238013, 24755609
Hereditary factor v deficiency	Hereditary Factor V Deficiency		19486170, 7910348, 12393490, 10942390, 8164741, 11418372, 31064749, 7911872, 20735394, 12816860, 9694743, 16476093, 22044617
Intestinal obstruction	Intestinal Obstruction
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983	26908601
Liver carcinoma	Liver carcinoma
Liver cirrhosis	Liver Cirrhosis		18485088
Liver fibrosis	Fibrosis, Liver		18485088
Malabsorption syndrome	Malabsorption Syndrome
Mesenteric arterial embolus	Acute Mesenteric Arterial Embolus		24282370
Mesenteric arterial thrombosis	Acute Mesenteric Arterial Thrombosis		24282370
Mesenteric vascular insufficiency	Mesenteric vascular insufficiency		24282370
Non rare thrombophilia	NON RARE IN EUROPE: Non rare thrombophilia
Nonocclusive mesenteric ischemia	Nonocclusive Mesenteric Ischemia		24282370
Occlusive mesenteric arterial ischemia	Occlusive Mesenteric Arterial Ischemia		24282370
Portal hypertension	Portal Hypertension
Retinal vein occlusion	Retinal Vein Occlusion		12022286
Sagittal sinus thrombophlebitis	Sagittal Sinus Thrombophlebitis		18382986
Sagittal sinus thrombosis	Sagittal Sinus Thrombosis		18382986
Septic phlebitis, sagittal sinus	Septic Phlebitis, Sagittal Sinus		18382986
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		15534175, 26908601, 15534175
Thrombosis	Deep Vein Thrombosis		12865888, 26908601, 16875063, 12296757, 12827938, 15033664
Thrombosis of retinal vein	Thrombosis of retinal vein		12022286
Vascular diseases	Peripheral Arterial Diseases		31285632