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F9 (coagulation factor IX)

Gene

Coagulation factor IX

F9 p22, FIX, HEMB, P19, PTC, THPH8

Xq27.1

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light ch

Show/Hide all(137)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801202	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852223	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852224	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs137852226	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852227	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852228	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852229	A>C	Pathogenic	Coding sequence variant, missense variant
rs137852230	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852231	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852232	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852233	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852234	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852235	G>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852236	A>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852237	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852238	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852239	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852240	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852241	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852243	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs137852244	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852245	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852246	T>G	Pathogenic	Coding sequence variant, missense variant
rs137852247	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852248	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852249	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852250	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852251	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852252	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852253	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852254	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852255	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852256	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852257	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852258	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852259	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852260	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852261	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852262	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852263	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852265	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852266	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852267	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852268	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852269	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852270	A>T	Pathogenic	Coding sequence variant, stop gained
rs137852271	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852272	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs137852273	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852274	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852275	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852276	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852277	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852278	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852279	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852280	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852281	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852283	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs144314232	G>A	Likely-pathogenic	Intron variant, synonymous variant, coding sequence variant
rs148060786	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150190385	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267606792	G>C	Pathogenic	Missense variant, coding sequence variant
rs387906474	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906475	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906477	G>T	Pathogenic	Missense variant, coding sequence variant
rs387906478	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906479	G>T	Pathogenic	Missense variant, coding sequence variant
rs387906480	T>A	Pathogenic	Missense variant, coding sequence variant
rs387906481	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906482	T>C	Pathogenic	Missense variant, coding sequence variant
rs398122990	A>G	Pathogenic	Intron variant
rs587776735	T>C	Pathogenic	Splice donor variant
rs587776736	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs749754992	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753654616	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs757996262	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs762229532	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1166164399	G>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs1216516070	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1234002716	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1266788575	G>A	Pathogenic	Intron variant
rs1275708479	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1317977313	A>G	Pathogenic	3 prime UTR variant
rs1351675410	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1385141619	G>A	Pathogenic	Coding sequence variant, missense variant
rs1434866164	G>A,C	Pathogenic	Splice acceptor variant
rs1479241411	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1556006174	->A	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1556008316	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556008584	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556435929	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1556435940	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556437035	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1569333062	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569481966	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603263374	TCA>AT	Pathogenic	Coding sequence variant, frameshift variant
rs1603263376	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603263395	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1603263397	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1603263399	GTTT>-	Likely-pathogenic	Splice donor variant, intron variant
rs1603263401	G>T	Likely-pathogenic	Intron variant
rs1603264205	C>T	Pathogenic	Coding sequence variant, missense variant
rs1603264236	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603264246	AC>-	Pathogenic	Coding sequence variant, stop gained
rs1603264299	T>G	Pathogenic	Coding sequence variant, missense variant
rs1603264300	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603264719	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603264727	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603264736	GAAAGA>AAAGG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603265480	G>C	Pathogenic	Splice acceptor variant, intron variant
rs1603265481	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265487	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1603265500	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265504	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1603265760	ATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1603265779	G>T	Pathogenic	Coding sequence variant, missense variant
rs1603265827	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603265830	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603265832	G>A	Pathogenic	Splice donor variant
rs1603267163	CACAGGTTGTTTT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1603267171	T>C	Pathogenic	Coding sequence variant, missense variant
rs1603267181	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267194	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267195	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267332	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267344	T>C	Pathogenic	Coding sequence variant, missense variant
rs1603267362	A>G	Pathogenic	Coding sequence variant, missense variant
rs1603267391	TTCAGTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603267393	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267398	C>A	Pathogenic	Coding sequence variant, stop gained
rs1603267411	T>A	Pathogenic	Coding sequence variant, stop gained
rs1603267412	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603267420	T>A	Pathogenic	Coding sequence variant, missense variant
rs1603267428	->GAGAT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603267443	C>T	Pathogenic	Coding sequence variant, missense variant
rs1603267474	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603267486	T>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT712007	hsa-miR-216b-3p	HITS-CLIP	19536157
MIRT712006	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT712005	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT712004	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT712003	hsa-miR-326	HITS-CLIP	19536157
MIRT712002	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT712001	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT712000	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT711999	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT711998	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT711997	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT711996	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT711995	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT711994	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT711993	hsa-miR-4314	HITS-CLIP	19536157
MIRT711992	hsa-miR-1302	HITS-CLIP	19536157
MIRT711991	hsa-miR-4298	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT715255	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715254	hsa-miR-302b-5p	HITS-CLIP	19536157
MIRT715253	hsa-miR-302d-5p	HITS-CLIP	19536157
MIRT715252	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT712007	hsa-miR-216b-3p	HITS-CLIP	19536157
MIRT712006	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT712005	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT712004	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT712003	hsa-miR-326	HITS-CLIP	19536157
MIRT712002	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT712001	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT712000	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT711999	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT711998	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT711997	hsa-miR-3192-5p	HITS-CLIP	19536157
MIRT711996	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT711995	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT711994	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT711993	hsa-miR-4314	HITS-CLIP	19536157
MIRT711992	hsa-miR-1302	HITS-CLIP	19536157
MIRT711991	hsa-miR-4298	HITS-CLIP	19536157
MIRT974765	hsa-miR-142-3p	CLIP-seq
MIRT974766	hsa-miR-3125	CLIP-seq
MIRT974767	hsa-miR-3132	CLIP-seq
MIRT974768	hsa-miR-3671	CLIP-seq
MIRT974769	hsa-miR-3916	CLIP-seq
MIRT974770	hsa-miR-4255	CLIP-seq
MIRT974771	hsa-miR-4272	CLIP-seq
MIRT974772	hsa-miR-4426	CLIP-seq
MIRT974773	hsa-miR-4436b-5p	CLIP-seq
MIRT974774	hsa-miR-4451	CLIP-seq
MIRT974775	hsa-miR-4647	CLIP-seq
MIRT974776	hsa-miR-4662b	CLIP-seq
MIRT974777	hsa-miR-4762-5p	CLIP-seq
MIRT974778	hsa-miR-495	CLIP-seq
MIRT974779	hsa-miR-515-5p	CLIP-seq
MIRT974780	hsa-miR-607	CLIP-seq
MIRT974781	hsa-miR-877	CLIP-seq
MIRT1988807	hsa-miR-1224-5p	CLIP-seq
MIRT974766	hsa-miR-3125	CLIP-seq
MIRT974767	hsa-miR-3132	CLIP-seq
MIRT1988808	hsa-miR-3915	CLIP-seq
MIRT974769	hsa-miR-3916	CLIP-seq
MIRT1988809	hsa-miR-3928	CLIP-seq
MIRT974773	hsa-miR-4436b-5p	CLIP-seq
MIRT974774	hsa-miR-4451	CLIP-seq
MIRT1988810	hsa-miR-4477a	CLIP-seq
MIRT1988811	hsa-miR-4689	CLIP-seq
MIRT1988812	hsa-miR-4719	CLIP-seq
MIRT1988813	hsa-miR-4760-3p	CLIP-seq
MIRT1988814	hsa-miR-513b	CLIP-seq
MIRT974779	hsa-miR-515-5p	CLIP-seq
MIRT974781	hsa-miR-877	CLIP-seq
MIRT2223198	hsa-miR-329	CLIP-seq
MIRT2223199	hsa-miR-3618	CLIP-seq
MIRT2223200	hsa-miR-362-3p	CLIP-seq
MIRT2223201	hsa-miR-3941	CLIP-seq
MIRT2223202	hsa-miR-603	CLIP-seq
MIRT2387602	hsa-miR-1305	CLIP-seq
MIRT2387603	hsa-miR-2053	CLIP-seq
MIRT2387604	hsa-miR-4775	CLIP-seq
MIRT2387605	hsa-miR-569	CLIP-seq
MIRT2387606	hsa-miR-590-3p	CLIP-seq
MIRT2465237	hsa-miR-1267	CLIP-seq
MIRT2465238	hsa-miR-3973	CLIP-seq
MIRT2465239	hsa-miR-4452	CLIP-seq
MIRT2465240	hsa-miR-520g	CLIP-seq
MIRT2465241	hsa-miR-520h	CLIP-seq
MIRT2465242	hsa-miR-653	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
CEBPA	Activation	8075306

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IDA	2592373, 20121197
GO:0004252	Function	Serine-type endopeptidase activity	NAS	8632006
GO:0005509	Function	Calcium ion binding	IDA	9169594, 14722079, 20121197
GO:0005515	Function	Protein binding	IPI	26157780, 26414444
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	2592373, 8632006
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IDA	20121197
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007596	Process	Blood coagulation	IBA	21873635
GO:0007596	Process	Blood coagulation	IDA	2472424, 20121197
GO:0007596	Process	Blood coagulation	IMP	2592373
GO:0007597	Process	Blood coagulation, intrinsic pathway	TAS
GO:0031638	Process	Zymogen activation	IBA	21873635
GO:0031638	Process	Zymogen activation	IDA	2592373
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
300746	3551	ENSG00000101981

Protein

UniProt ID

P00740

Protein name

Coagulation factor IX (EC 3.4.21.22) (Christmas factor) (Plasma thromboplastin component) (PTC) [Cleaved into: Coagulation factor IXa light chain; Coagulation factor IXa heavy chain]

Protein function

Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. {ECO:0000269|PubMed:1730

PDB

1CFH , 1CFI , 1EDM , 1IXA , 1MGX , 1NL0 , 1RFN , 2WPH , 2WPI , 2WPJ , 2WPK , 2WPL , 2WPM , 3KCG , 3LC3 , 3LC5 , 4WM0 , 4WMA , 4WMB , 4WMI , 4WMK , 4WN2 , 4WNH , 4YZU , 4Z0K , 4ZAE , 5EGM , 5F84 , 5F85 , 5F86 , 5JB8 , 5JB9 , 5JBA , 5JBB , 5JBC , 5TNO , 5TNT , 5VYG , 6MV4 , 6RFK , 6X5J , 6X5L , 6X5P , 7AHV , 8EPC , 8EPH , 8EPK , 8OL9 , 9BVK , 9BVR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00594	Gla	52 → 92	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
PF00008	EGF	97 → 127	EGF-like domain	Domain
PF14670	FXa_inhibition	134 → 170		Domain
PF00089	Trypsin	227 → 454	Trypsin	Domain

Sequence

MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNL
ERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCP
FGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGR
VSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRII
PHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVF
HKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE
GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT

Sequence length

461

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Extrinsic Pathway of Fibrin Clot Formation Intrinsic Pathway of Fibrin Clot Formation Gamma-carboxylation of protein precursors Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Removal of aminoterminal propeptides from gamma-carboxylated proteins

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Hemophilia	Hemophilia B, Hemophilia A	rs1178811105, rs2147483647, rs137852241, rs137852243, rs1927322453, rs1927322926, rs1166164399	3009023, 22639855, 18624698, 26612714, 1902289, 11122099, 29993188, 3401602, 12604421, 9452115, 9169594, 1346975, 2592373, 25470321, 1615485, 8680410, 12588353, 9590153, 3286010, 2472424, 1958666, 19699296, 25251685, 3416069, 2372509, 1864609, 2753873, 26964564, 28752769, 8257988, 2388855, 2773937, 2738071, 3790720, 23093250, 8199596, 9639513, 9222764, 9600455, 16643212, 10698280, 7062952, 2066105, 8076946, 25330515, 2198809, 7981722, 2714791, 22544209, 2339358, 2162822, 30210749, 27824213, 2775660, 2713493, 8295821, 10094553, 6603618, 15921378, 1969838, 3243764, 16051741, 31064749
Thrombophilia	Thrombophilia	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
Thrombophilia, x-linked	Thrombophilia, X-Linked, Due To Factor Ix Defect	rs137852372, rs137852428, rs137852435, rs137852467, rs137852238, rs137852283, rs369414658, rs781928603, rs781943956, rs942909873	2472424, 23093250, 19846852, 2198809, 1864609, 19699296, 25470321, 2066105, 27824213, 18624698, 22639855, 29993188, 1969838, 22544209

Show/Hide Unknown Diseases (5)

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		1980485, 9132265, 2884369, 7760986
Factor viii deficiency	Autosomal Hemophilia A, Factor VIII Deficiency		16051741
Hemophilia b	Severe hemophilia B, Mild hemophilia B, Moderately severe hemophilia B
Malignant mesothelioma	Malignant mesothelioma		23056237
Thrombosis	Deep Vein Thrombosis

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