VWF (von Willebrand factor)

Gene

• Entrez ID: 7450
• Gene name: Von Willebrand factor
• Gene symbol: VWF
• Synonyms (NCBI Gene): F8VWF, VWD
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800379	A>G,T	Benign, pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1800382	C>A,T	Benign, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1800386	T>C	Conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs2363337	C>T	Not-provided, pathogenic	Splice donor variant
rs41276736	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs41276738	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61748467	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748477	G>A	Likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748478	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748480	C>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs61748481	C>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs61748497	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748511	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749364	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749370	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749372	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749380	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749384	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749385	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749387	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749389	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749392	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749393	C>A,G	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749397	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs61749398	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749403	C>A,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749407	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61749408	A>G	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750069	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750070	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750071	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750072	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750074	G>A	Pathogenic	Missense variant, coding sequence variant
rs61750077	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750081	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750084	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750089	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750095	C>-,CC	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61750097	A>C,G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750100	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750101	A>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750117	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs61750577	C>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750579	A>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750581	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750584	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750595	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750601	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs61750603	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750604	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750605	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750610	G>C,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750612	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750624	C>A	Not-provided, likely-pathogenic	Splice donor variant
rs61750630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751286	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751288	G>A	Not-provided, likely-pathogenic	Stop gained, coding sequence variant
rs61751296	G>A	Pathogenic	Stop gained, coding sequence variant
rs61753992	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753994	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61754002	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61754010	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754011	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754019	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62643630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62643632	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs62643634	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs63749067	GAGGGCAGGGCAGGCGCACTCCAG>-	Not-provided, likely-pathogenic	Coding sequence variant, inframe deletion
rs111597150	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121964894	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121964895	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs139845585	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs139864572	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs141649383	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs143054357	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144072210	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147924974	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs149834874	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607321	C>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607325	A>C	Pathogenic	Missense variant, coding sequence variant
rs267607326	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607328	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607334	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607340	ACGTGGATG>-	Likely-pathogenic, not-provided	Inframe deletion, coding sequence variant
rs267607347	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607353	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607364	->CT	Likely-pathogenic, not-provided	Frameshift variant, coding sequence variant
rs267607366	C>A,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs369669154	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs369970893	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370854023	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs373787920	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377196768	G>T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs569962285	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs746457842	C>T	Likely-pathogenic	Splice acceptor variant
rs746482504	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs751286556	->A	Pathogenic	Coding sequence variant, frameshift variant
rs761288966	G>A,C	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs762105711	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772203447	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780538558	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs900907976	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555194979	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555198839	C>A	Pathogenic	Splice donor variant
rs1565832072	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565832211	G>A	Pathogenic	Stop gained, coding sequence variant
rs1591834850	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591836930	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591838031	G>T	Likely-pathogenic	Intron variant
rs1591838792	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1591838814	TCCTCCATGTCGGTGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591838833	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591838900	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591841452	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591848387	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591857613	AAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGC	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591858979	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591862022	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1591862342	GGT>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1591862366	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591863294	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865026	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865617	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1591866220	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591870340	C>T	Pathogenic	Stop gained, coding sequence variant
rs1591874316	->CAAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591886521	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591890769	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1591895308	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591895879	A>G	Likely-pathogenic	Splice donor variant
rs1591914708	TCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCCAGA>-	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924188	TAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAG	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924208	TTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCT	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq
MIRT2147040	hsa-miR-2278	CLIP-seq
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT2147041	hsa-miR-4468	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERG	Activation	22235125
ERG	Unknown	19359602;9444957
ETS1	Unknown	9444957
ETS2	Unknown	9444957
GATA6	Unknown	12511565
NFIC	Unknown	11895773
NFIL3	Unknown	15498853
NFKB1	Unknown	10848823
POU2F1	Activation	7507210
POU2F1	Repression	9694713
RELA	Unknown	10848823
YY1	Unknown	11522021

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IDA	15824096
GO:0002020	Function	Protease binding	IPI	12775718
GO:0005178	Function	Integrin binding	IPI	9079671
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	23979707, 25037231, 28675934
GO:0005515	Function	Protein binding	IPI	2839553, 7721887, 7756647, 8562925, 11943773, 12183630, 15039442, 16221672, 16912226, 18492805, 25512528, 27749002, 32814053
GO:0005518	Function	Collagen binding	IDA	2056120
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	10887119
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	6754744
GO:0007155	Process	Cell adhesion	IDA	10764791
GO:0007155	Process	Cell adhesion	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	16409464
GO:0007599	Process	Hemostasis	IEA
GO:0007599	Process	Hemostasis	IMP	10887119
GO:0009611	Process	Response to wounding	TAS	15029268
GO:0019865	Function	Immunoglobulin binding	IDA	3121636
GO:0030168	Process	Platelet activation	IDA	8565074
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0031012	Component	Extracellular matrix	HDA	23979707, 25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	6754744
GO:0031091	Component	Platelet alpha granule	NAS	9759493
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031589	Process	Cell-substrate adhesion	IBA
GO:0031589	Process	Cell-substrate adhesion	IDA	9079671
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0033093	Component	Weibel-Palade body	IDA	3082891, 3087627
GO:0033093	Component	Weibel-Palade body	IEA
GO:0042802	Function	Identical protein binding	IPI	10887119, 16409464, 17895385, 18182488, 18492805, 21857647
GO:0051087	Function	Protein-folding chaperone binding	IDA	10887119
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071944	Component	Cell periphery	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	14656219

Other IDs

• MIM: 613160
• HGNC: 12726
• e!Ensembl: ENSG00000110799

Protein

• UniProt ID: P04275
• Protein name: von Willebrand factor (vWF) [Cleaved into: von Willebrand antigen 2 (von Willebrand antigen II)]
• Protein function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a c
• PDB: 1AO3, 1ATZ, 1AUQ, 1FE8, 1FNS, 1IJB, 1IJK, 1M10, 1OAK, 1SQ0, 1U0N, 1UEX, 2ADF, 2MHP, 2MHQ, 3GXB, 3HXO, 3HXQ, 3PPV, 3PPW, 3PPX, 3PPY, 3ZQK, 4C29, 4C2A, 4C2B, 4DMU, 4NT5, 5BV8, 6FWN, 6N29, 7EOW, 7F49, 7KWO, 7P4N, 7PMV, 7PNF, 7ZWH, 8D3C, 8D3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00094	VWD	35 → 179	von Willebrand factor type D domain	Family
  PF08742	C8	224 → 291	C8 domain	Domain
  PF01826	TIL	295 → 348	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	388 → 541	von Willebrand factor type D domain	Family
  PF08742	C8	583 → 648	C8 domain	Domain
  PF01826	TIL	652 → 707	Trypsin Inhibitor like cysteine rich domain	Domain
  PF01826	TIL	776 → 827	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	867 → 1013	von Willebrand factor type D domain	Family
  PF08742	C8	1059 → 1126	C8 domain	Domain
  PF01826	TIL	1141 → 1196	Trypsin Inhibitor like cysteine rich domain	Domain
  PF16164	VWA_N2	1198 → 1276	VWA N-terminal	Family
  PF00092	VWA	1277 → 1452	von Willebrand factor type A domain	Domain
  PF00092	VWA	1498 → 1660	von Willebrand factor type A domain	Domain
  PF00092	VWA	1691 → 1862	von Willebrand factor type A domain	Domain
  PF00094	VWD	1950 → 2102	von Willebrand factor type D domain	Family
  PF08742	C8	2138 → 2199	C8 domain	Domain
  PF00093	VWC	2257 → 2327	von Willebrand factor type C domain	Family
  PF00093	VWC	2431 → 2494	von Willebrand factor type C domain	Family
  PF00093	VWC	2582 → 2644	von Willebrand factor type C domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYL
  LAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYL
  ETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTL
  TSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPL
  VDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGME
  YRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPG
  TSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQD
  HSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDL
  RIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSG
  LAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVS
  PLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQ
  CGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPED
  IFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADN
  LRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGE
  TVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGS
  NPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGR
  YIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVD
  FGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPY
  LDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGY
  ECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCE
  VAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVE
  DISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVE
  YHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRI
  TLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVL
  SSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVA
  FVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGD
  ILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLP
  GDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTL
  SPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITT
  IDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILV
  TDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTM
  VTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCD
  RGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNK
  EQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEV
  NVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD
  GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFY
  AICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHC
  DGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQI
  CTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHC
  ERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVN
  STVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAV
  MGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQ
  WASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERME
  ACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGEC
  CGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
  CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMY
  SIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK

• Sequence length: 2813

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Human papillomavirus infection
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
GP1b-IX-V activation signalling
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
Signaling downstream of RAS mutants

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic; Pathogenic	rs61748481, rs61750072, rs61751286, rs61748477, rs41276738, rs62643632	RCV001270518 RCV000626712 RCV001270490 RCV000851745 RCV001270529 RCV000852083
Abnormality of blood and blood-forming tissues	Pathogenic	rs61750612	RCV001813924
Abnormality of coagulation	Likely pathogenic; Pathogenic	rs62643634, rs61750095, rs61749384, rs41276738, rs111597150, rs1591866220	RCV000852085 RCV000851794 RCV000851990 RCV000851593 RCV000852194 RCV000851633
Hereditary von Willebrand disease	Likely pathogenic; Pathogenic	rs764543553, rs62643625, rs267607305, rs61748482, rs267607321, rs2363337, rs267607328, rs267607332, rs61749364, rs61749371, rs61749377, rs267607334, rs61749385, rs61749389, rs267607337, rs61749395, rs61749402, rs61749408, rs61750071, rs61750072, rs61750074, rs61750077, rs61753992, rs61750078, rs61750081, rs61750083, rs61753994, rs61750100, rs267607340, rs267607344, rs61750577, rs61750605, rs61750624, rs61751286, rs61751288, rs267607363, rs63749067, rs61753997, rs61754000, rs2136403361, rs61750584, rs61750117, rs61749384, rs61749387, rs61749397, rs61749403, rs61748477, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs121964895, rs61749388, rs2136338728, rs2136409514, rs2136413547, rs2497235136, rs267607331, rs61750623, rs2497384798, rs2497535795, rs2497227407, rs1944671082, rs267607326, rs373787920, rs762105711, rs1591836930, rs139864572, rs1591838814, rs1591838833, rs1591848387, rs61750610, rs1591862022, rs61750069, rs1591870340, rs1591874316, rs761288966, rs1591890769, rs1591895308, rs147924974, rs751286556, rs1591895879, rs1591857613, rs1591924208, rs1591924188, rs746482504, rs772203447	RCV003399191 RCV003486648 RCV003447492 RCV004017399 RCV000851636 RCV000851637 RCV000851957 RCV003126497 RCV000851643 RCV002243727 RCV003155073 RCV000851986 RCV003226194 RCV000678766 RCV001250230 RCV000851600 RCV003323398 RCV000851781 RCV000678770 RCV000851939 RCV002243737 RCV000778378 RCV000852119 RCV000852120 RCV002271406 RCV000852123 RCV002227446 RCV000851799 RCV000852128 RCV000852131 RCV002222391 RCV000852141 RCV000852152 RCV000851853 RCV000778374 RCV000852206 RCV002243754 RCV000851880 RCV003398701 RCV002243756 RCV001807690 RCV000778377 RCV000851942 RCV000851599 RCV000851770 RCV000678767 RCV002227435 RCV002227436 RCV001195286 RCV000169683 RCV002227437 RCV000851820 RCV002227438 RCV000851752 RCV000851598 RCV002227921 RCV002245484 RCV002245486 RCV002245489 RCV002308676 RCV003479616 RCV003479819 RCV003479972 RCV004018210 RCV004018258 RCV004018297 RCV000851956 RCV001563671 RCV000851647 RCV000600065 RCV000851867 RCV000851865 RCV000851615 RCV000852203 RCV000851607 RCV000852158 RCV000851803 RCV000852114 RCV000851766 RCV000852098 RCV000851729 RCV000852041 RCV000851587 RCV000851924 RCV000851810 RCV000852007 RCV000852276 RCV000852277 RCV000852278 RCV000778375 RCV000778379
Prolonged bleeding time	Pathogenic	rs61750072	RCV000626712
Reduced quantity of Von Willebrand factor	Pathogenic	rs121964895	RCV001003906
Reduced von Willebrand factor activity	Pathogenic	rs121964895, rs1591865026	RCV001003906 RCV001003907
See cases	Pathogenic	rs61750606	RCV003156071
Thrombocytopenia	Likely pathogenic; Pathogenic	rs61748481, rs267607337, rs61751286, rs41276738, rs1943611659, rs779819811	RCV001270518 RCV002280869 RCV001270490 RCV001270529 RCV003313845 RCV003313899
von Willebrand disease type 1	Pathogenic; Likely pathogenic	rs1591836930, rs2136440316, rs61753984, rs61748466, rs267607312, rs267607314, rs267607316, rs2363337, rs267607328, rs61749364, rs267607334, rs61749390, rs61749395, rs61749396, rs61749400, rs61749402, rs61749407, rs61750072, rs61750074, rs61753992, rs61750078, rs61750083, rs61750084, rs267607345, rs267607355, rs61750620, rs61750626, rs61751286, rs61753997, rs61754000, rs2136412581, rs1565831817, rs2136413792, rs2136418339, rs2136420496, rs2136454246, rs1591889534, rs61754005, rs2136472072, rs1195620730, rs2136522667, rs2136522662, rs2136456013, rs2136430770, rs2136430552, rs1201852829, rs2136338765, rs2136411659, rs61750584, rs61749384, rs61749397, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs121964895, rs61748511, rs2136385288, rs1268159078, rs1194776238, rs2136409514, rs1438247325, rs2136420816, rs2136413887, rs2136462110, rs2136411706, rs2136411547, rs2136405765, rs2136382972, rs2497421495, rs2497390193, rs2497515136, rs1944059755, rs2497434558, rs758895722, rs267607326, rs61748467, rs111597150, rs1591865026, rs1591865617, rs1591886521, rs267607366, rs746482504, rs1591858979, rs1943442849	RCV002264782 RCV005361578 RCV005859502 RCV005359027 RCV002264642 RCV002264643 RCV003989318 RCV004820829 RCV002264645 RCV002264646 RCV002264651 RCV005859503 RCV002264655 RCV003333732 RCV002222015 RCV002280870 RCV002264657 RCV001093529 RCV002264660 RCV002264661 RCV002466251 RCV002498470 RCV004760373 RCV003387759 RCV002264666 RCV002264668 RCV002264669 RCV002264670 RCV003313936 RCV002280872 RCV001420492 RCV001420491 RCV001420496 RCV001420361 RCV001420363 RCV001420368 RCV001420369 RCV001420370 RCV001420372 RCV001774767 RCV001774769 RCV001774770 RCV001774771 RCV001774772 RCV001774773 RCV001774774 RCV001774775 RCV001838831 RCV005859448 RCV005007800 RCV002476901 RCV004795363 RCV000000321 RCV000000323 RCV000000325 RCV002264634 RCV002264635 RCV000000335 RCV000000337 RCV002223126 RCV002223127 RCV002264839 RCV003313799 RCV002264851 RCV002264854 RCV002264857 RCV002264859 RCV002264868 RCV002264869 RCV002264871 RCV002264872 RCV002280974 RCV003313848 RCV003314540 RCV003389103 RCV003389129 RCV004787079 RCV002264640 RCV000024003 RCV002264740 RCV002222625 RCV000851955 RCV000851736 RCV000852208 RCV005411561 RCV000985056 RCV001260928
von Willebrand disease type 2	Likely pathogenic; Pathogenic	rs2136409487, rs61753984, rs267607309, rs61748466, rs61753988, rs61748496, rs267607314, rs267607321, rs267607324, rs61749371, rs61749375, rs61749379, rs267607334, rs267607335, rs61749385, rs61749386, rs61749389, rs61749395, rs61749396, rs61749400, rs61749402, rs61749403, rs61750071, rs61750072, rs61750074, rs61750077, rs61750078, rs61750081, rs61750083, rs61750084, rs61750100, rs267607340, rs61750110, rs267607349, rs61750577, rs61750596, rs267607352, rs61750606, rs61753998, rs2136411659, rs61750584, rs61750117, rs61750579, rs61749384, rs61749387, rs61749397, rs61748477, rs121964894, rs41276738, rs61750612, rs61749398, rs61749372, rs62643632, rs61748511, rs61754010, rs61749388, rs2136412350, rs2136411988, rs2136470486, rs61750585, rs772796741, rs2136413535, rs2136412203, rs1194776238, rs1565838728, rs2136417619, rs61750593, rs2136455744, rs61750082, rs2136412168, rs2136412846, rs1591865026, rs267607326, rs1555194979, rs1591862342, rs1591862366, rs1591863294, rs1591865617, rs1591890769, rs746482504, rs200770256	RCV002264781 RCV003447491 RCV003447493 RCV003147338 RCV002466428 RCV003447495 RCV002264644 RCV002281057 RCV002243723 RCV002243726 RCV002243728 RCV002264650 RCV002264652 RCV002264653 RCV002243729 RCV002243730 RCV002264654 RCV002243731 RCV002243732 RCV002466429 RCV002243733 RCV002243734 RCV002243735 RCV002264656 RCV002222016 RCV000852116 RCV002264659 RCV002243738 RCV002222017 RCV002243739 RCV002243740 RCV002498470 RCV002243741 RCV002222018 RCV002264662 RCV002264663 RCV002264664 RCV002243742 RCV002243744 RCV002271338 RCV003447496 RCV002243755 RCV002243467 RCV002243602 RCV002243603 RCV002243604 RCV000851989 RCV002225253 RCV000851771 RCV002243605 RCV002264633 RCV004795363 RCV000336497 RCV003447467 RCV003447468 RCV002243607 RCV002476902 RCV002264636 RCV002243608 RCV002243531 RCV002244520 RCV002244521 RCV002244522 RCV002244523 RCV002244527 RCV002244528 RCV002244530 RCV002244534 RCV002244536 RCV002244540 RCV002244541 RCV002244542 RCV002244552 RCV002264850 RCV002264860 RCV002264863 RCV002272594 RCV003313897 RCV000024001 RCV003447537 RCV002264704 RCV000852135 RCV000852134 RCV000851773 RCV000851644 RCV002245652 RCV002264736 RCV005411561 RCV001197641
Von Willebrand disease type 2A	Likely pathogenic; Pathogenic	rs61754006, rs267607332, rs61749364, rs61750072, rs61750100, rs61750585, rs61751311, rs61750584, rs61750117, rs61750579, rs61749372, rs61750101, rs61754011, rs61751310, rs61748511, rs61754010, rs772796741, rs2136412203, rs1591865026, rs267607326	RCV002271405 RCV001093531 RCV005859331 RCV001093529 RCV004595920 RCV005859332 RCV004821275 RCV000000308 RCV000000309 RCV000000310 RCV000000328 RCV000000331 RCV000000332 RCV000000333 RCV004821258 RCV000000346 RCV005859358 RCV004821325 RCV005859359 RCV005859366 RCV004821262 RCV005859351
Von Willebrand disease type 2B	Pathogenic; Likely pathogenic	rs61749371, rs61749389, rs61749390, rs61749393, rs61749394, rs61749392, rs61749384, rs61749387, rs61749397, rs61749403, rs2136413547, rs2497272240	RCV004821264 RCV005252758 RCV004821265 RCV004821266 RCV004821267 RCV000000311 RCV000000312 RCV000000313 RCV000000314 RCV000000315 RCV000000329 RCV005859360 RCV002466844
von Willebrand disease type 2M	Likely pathogenic; Pathogenic	rs61749396, rs61749399, rs61750072, rs61750077, rs61750078, rs61750080, rs267607352, rs61749398, rs61749380	RCV004821268 RCV004821269 RCV001093529 RCV004821270 RCV001093530 RCV004821271 RCV004821273 RCV000000327 RCV000000339
von Willebrand disease type 2N	Likely pathogenic; Pathogenic	rs61748466, rs61748485, rs61748477, rs121964894, rs41276738, rs61748478, rs62643630, rs61754002, rs61748497	RCV005252035 RCV004812300 RCV000000318 RCV000000319 RCV000000320 RCV000000340 RCV000000341 RCV000000344 RCV000000345
von Willebrand disease type 3	Pathogenic; Likely pathogenic	rs267607352, rs1943194455, rs2136356178, rs1591836930, rs2136358550, rs1591838814, rs1256082707, rs2136375588, rs2136376158, rs2136385288, rs2136385927, rs2136385937, rs774210583, rs2136387598, rs1359172781, rs764543553, rs2136409487, rs2136411489, rs753701755, rs2136412494, rs2136412749, rs2136413513, rs2136413727, rs2136413869, rs2136418333, rs2136418437, rs2136424529, rs1944232310, rs2136426808, rs2136440246, rs746648486, rs2136440279, rs2136440291, rs2136440316, rs2136440319, rs776747320, rs2136449605, rs61748462, rs2136454053, rs750364485, rs2136455808, rs2136455960, rs1381910966, rs770203987, rs1321160729, rs1250492485, rs2136470584, rs2136474390, rs767837153, rs2136500386, rs1312486904, rs1481396407, rs2136522699, rs2136522827, rs61753984, rs61754003, rs61754009, rs61748460, rs61748463, rs61748464, rs62643619, rs62643628, rs61748465, rs61748466, rs61748480, rs61748481, rs61748482, rs61753988, rs2363337, rs267607328, rs61749364, rs61749366, rs267607337, rs61749405, rs61750083, rs61753994, rs61750103, rs267607343, rs267607301, rs61750606, rs61750614, rs62643623, rs62643624, rs61750626, rs267607358, rs267607359, rs62643640, rs61751286, rs61751288, rs61751297, rs267607364, rs267607365, rs61751301, rs267607366, rs61751303, rs61751304, rs61751305, rs61753998, rs267607368, rs61754000, rs2136420496, rs2136375523, rs61749384, rs61749397, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs62643632, rs61750630, rs1944531613, rs2136456030, rs2136412017, rs1475440343, rs2497449184, rs2136356244, rs2497448284, rs2497505797, rs1591834850, rs1591838792, rs1591841452, rs746457842, rs1591914708, rs746482504, rs200770256	RCV001787130 RCV001787141 RCV001787225 RCV001787224 RCV001787223 RCV001787222 RCV001787209 RCV001787208 RCV001787206 RCV001787203 RCV001787201 RCV001787200 RCV001787199 RCV001787185 RCV001787183 RCV001787178 RCV001787176 RCV001787139 RCV001787138 RCV001787137 RCV001787136 RCV001787134 RCV001787133 RCV001787132 RCV001787217 RCV001787216 RCV001787212 RCV001787211 RCV001787210 RCV001787196 RCV001787197 RCV001787195 RCV001787194 RCV001787193 RCV001787192 RCV001787189 RCV001787190 RCV001787171 RCV001787170 RCV001787168 RCV001787166 RCV001787165 RCV001787164 RCV001787162 RCV001787161 RCV001787160 RCV001787159 RCV001787158 RCV001787227 RCV001787202 RCV001787184 RCV001787135 RCV001787214 RCV001787213 RCV001787188 RCV001787039 RCV001787040 RCV001787041 RCV001787042 RCV001787043 RCV001787044 RCV004771460 RCV001787045 RCV001787046 RCV005359027 RCV001787047 RCV001787048 RCV001787049 RCV001787050 RCV001787052 RCV001787053 RCV001787054 RCV001787055 RCV001787056 RCV001787057 RCV002498470 RCV001787058 RCV001787059 RCV001787060 RCV001787063 RCV001787064 RCV001787065 RCV001787067 RCV001787068 RCV001787069 RCV001787070 RCV001787071 RCV001787072 RCV005364983 RCV001787074 RCV001787075 RCV001787077 RCV001787078 RCV001787079 RCV001787080 RCV001787081 RCV001787082 RCV001787083 RCV001787084 RCV001787085 RCV001787087 RCV005867029 RCV001787230 RCV005007800 RCV002476901 RCV004795363 RCV000762901 RCV000000322 RCV000000324 RCV000000326 RCV000000330 RCV000000343 RCV002264852 RCV002264862 RCV002264865 RCV002264866 RCV002283816 RCV002283992 RCV002466792 RCV002466950 RCV001787115 RCV001787113 RCV001787112 RCV001787114 RCV001787111 RCV001787116 RCV005411561 RCV001787125
von Willebrand disorder	Pathogenic; Likely pathogenic	rs1481396407, rs61748481, rs267607328, rs267607331, rs61749395, rs61750071, rs61750077, rs61750112, rs61750606, rs267607355, rs61751286, rs267607364, rs61751301, rs61754000, rs1227349336, rs61750584, rs41276738, rs61750612, rs61751296, rs1944061491, rs1565831817, rs758895722, rs373787920, rs1591865617, rs751286556	RCV005408878 RCV006263663 RCV004586549 RCV005406821 RCV005237534 RCV005417961 RCV004700405 RCV005431469 RCV004700406 RCV006263664 RCV004782236 RCV003993804 RCV004700407 RCV005055578 RCV005419769 RCV005237342 RCV003987302 RCV005887121 RCV005237343 RCV004587505 RCV005240916 RCV005433493 RCV004701576 RCV004782541 RCV004586919
von Willebrand factor Vicenza	Pathogenic	rs121964895	RCV000000336
VWF-related disorder	Pathogenic; Likely pathogenic	rs61753984, rs61754003, rs267607305, rs121964895, rs61749385, rs61749395, rs61750074, rs61750078, rs61750606, rs61750624, rs61753997, rs61750584, rs61749403, rs41276738, rs61750595, rs61750612, rs2497390162, rs1414503929, rs1565832049, rs2497516912, rs758895722, rs2497300203, rs1591895308, rs751286556	RCV004739354 RCV004549525 RCV004739355 RCV004549527 RCV004739357 RCV004549529 RCV003335097 RCV004724806 RCV004549533 RCV004549534 RCV004739360 RCV004739270 RCV004547443 RCV004547445 RCV004739271 RCV004547446 RCV004547447 RCV004552508 RCV004548645 RCV004550595 RCV004548986 RCV004548906 RCV004550896 RCV004549840 RCV004549841

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs34444862	RCV005897321
Cervical cancer	Benign; Likely benign	rs2229446, rs112046757, rs34444862	RCV005887755 RCV005893129 RCV005897322
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	rs33978901, rs2229446, rs111240043, rs112046757, rs779045480, rs114713980, rs145125264	RCV005887744 RCV005887756 RCV005893133 RCV005893130 RCV005893132 RCV005893134 RCV005912123
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs33978901, rs2229446	RCV005887741 RCV005887754
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs61749370	RCV004558309
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs33978901, rs2229446, rs114713980	RCV005887746 RCV005887758 RCV005893135
Hemorrhage	Conflicting classifications of pathogenicity; Uncertain significance	rs61754019, rs2497216170	RCV003313777 RCV003313874
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs61750603	RCV005887753
Hereditary factor VIII deficiency disease	Uncertain significance	rs149051646	RCV002466947
Heterotopia, periventricular, X-linked dominant	Conflicting classifications of pathogenicity	rs1591867991	RCV004813172
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs33978901, rs61750601, rs2229446, rs34444862	RCV005887748 RCV005887752 RCV005887762 RCV005897325
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs33978901, rs61750601	RCV005887742 RCV005887749
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs149834874	RCV005900673
Melanoma	Conflicting classifications of pathogenicity	rs33978901	RCV005887747
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs33978901, rs145125264	RCV005887743 RCV005912122
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs2229446, rs114713980	RCV005887759 RCV005893136
Pancreatic adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs61750601, rs2229446	RCV005887750 RCV005887757
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs33978901, rs2229448, rs112046757, rs34444862, rs145125264	RCV005887745 RCV005889932 RCV005893131 RCV005897323 RCV005912124
Thrombus	Conflicting classifications of pathogenicity; risk factor	rs1800386	RCV002280857
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs61750601, rs2229446, rs35365059, rs34444862	RCV005887751 RCV005887760 RCV005891337 RCV005897324
Thyroid cancer, nonmedullary, 1	-; Benign; Likely benign	rs1945294070, rs2229446	RCV006069287 RCV005887761
Uterine corpus endometrial carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs142316324, rs146729537	RCV005927738 RCV005931140

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Stimulate	3258899
Acute Coronary Syndrome	Associate	26600159, 36474435
Adenocarcinoma	Associate	17965528, 26683690
Adenocarcinoma of Lung	Associate	31698633, 33062704, 33511215, 33661044, 35635202
AIDS Related Complex	Stimulate	3258899
Alternating hemiplegia of childhood	Associate	28652401
Alzheimer Disease	Stimulate	31315437
Alzheimer Disease	Associate	32812532
Amyotrophic Lateral Sclerosis	Associate	32586411
Anaphylaxis	Associate	27819553
Anemia	Associate	19786614, 34807970
Anemia Sickle Cell	Stimulate	24182550
Anemia Sickle Cell	Associate	31648337
Angina Unstable	Associate	12025897
Angiodysplasia	Associate	29734512
Angiokeratoma	Associate	31169171
Anterior Cruciate Ligament Injuries	Associate	38160725
Aortic Valve Stenosis	Stimulate	36362368
Arthritis Rheumatoid	Associate	15593185, 33977746
Asthma	Associate	34456632
Atherosclerosis	Associate	16455954, 25592833, 31450612, 31824501
Atherosclerosis	Stimulate	27941341
Atrial Fibrillation	Associate	15056828, 17322628, 24412254, 28306170
Atrial Fibrillation	Stimulate	21972893
Atrial Remodeling	Associate	15056828
Atypical Hemolytic Uremic Syndrome	Stimulate	31484852
Autoimmune Diseases	Associate	37492575
Bernard Soulier Syndrome	Associate	15609295, 1694864, 21173099, 28395735, 35055070, 7690774, 9423819
Bernard Soulier Syndrome	Stimulate	25370924
Bile Duct Diseases	Associate	40596471
Bird headed dwarfism Montreal type	Associate	19060241
Blood Coagulation Disorders	Associate	1906877, 32106291, 32758992, 33991637, 36507906, 36611985, 36944974, 36980889, 38320121
Blood Coagulation Disorders	Stimulate	36991043
Blood Coagulation Disorders Inherited	Associate	2584182
Blood Platelet Disorders	Associate	10814631, 11674857, 11682459, 12637314, 15681423, 17155947, 18369690, 18443791, 18776767, 19286880, 19786614, 2394830, 28934202, 29242293, 30366922, 32234826, 32586411, 32603422, 32920806, 3487353, 35001370, 38320121
Body Weight	Associate	22207689, 32609846
Brain Death	Stimulate	18318776
Brain Infarction	Associate	17322628
Breast Neoplasms	Associate	31018945, 37268731, 39379897, 39529627
Carcinogenesis	Associate	36359790
Carcinoma Hepatocellular	Stimulate	18300343
Carcinoma Hepatocellular	Associate	37958632
Carcinoma Intraductal Noninfiltrating	Associate	11953822
Carcinoma Lobular	Stimulate	31018945
Carcinoma Non Small Cell Lung	Associate	28148898, 30259978
Carcinoma Squamous Cell	Associate	17965528
Cardiovascular Diseases	Associate	12792699, 20940418, 21156930, 23733198, 25779970, 29685722, 31557676, 35242298, 36474435, 38203423
Cardiovascular Diseases	Stimulate	26368360
Carotid Artery Diseases	Associate	35242298
Carotid Artery Thrombosis	Associate	31450612
Carotid Stenosis	Associate	31557676, 32932544
Cerebral Arterial Diseases	Associate	22235876
Cerebral Infarction	Associate	28495826
Cerebral Small Vessel Diseases	Associate	27576214
Cerebrovascular Disorders	Associate	28476896, 28495826, 35242298
Cholangiocarcinoma	Associate	35758372
Cholangitis Sclerosing	Inhibit	39969330
Choroidal Effusions	Associate	33977746
Coagulation Protein Disorders	Associate	11380453
Cognition Disorders	Associate	32812532
Colitis Ulcerative	Stimulate	31038478
Colonic Diseases	Associate	24236063
Colorectal Neoplasms	Associate	36510452
Congenital Abnormalities	Associate	9074430
Congenital disorder of glycosylation type 2E	Associate	19286880, 23621778
Constriction Pathologic	Associate	35242298
Corneal Endothelial Cell Loss	Associate	3306682
Coronary Artery Disease	Associate	11736957, 22780915
Coronary Artery Disease	Stimulate	36362368
Coronary Disease	Associate	10760079, 14717782, 20940418, 22568520, 32007502
COVID 19	Associate	33578631, 33991637, 34710269, 35379747, 35521725, 35875995, 36611985, 36685671, 36980889, 37098810, 39333538
COVID 19	Stimulate	35033854
Craniocerebral Trauma	Associate	36813871
Critical Illness	Associate	33141764
Cushing Syndrome	Associate	18173757
Deafness X Linked 1	Associate	18041654
Death	Stimulate	27236861
Death	Associate	29685722
Depressive Disorder Major	Associate	26171980
Developmental Disabilities	Associate	30701557
Diabetes Mellitus	Associate	10760079, 23383177, 23733198, 35592524
Diabetes Mellitus	Stimulate	22972845
Diabetes Mellitus Type 1	Associate	10760079, 36754679
Diabetes Mellitus Type 2	Associate	23249721
Diabetes Mellitus Type 2	Stimulate	23383177
Diabetic Nephropathies	Associate	10760079, 32778679
Disease	Associate	20492466
Disseminated Intravascular Coagulation	Associate	36813871
Drug Related Side Effects and Adverse Reactions	Associate	23143626
Emphysema	Associate	32210548
Encephalomyelitis Acute Disseminated	Associate	34685765
Enhanced S Cone Syndrome	Associate	36754679
Eosinophilic Esophagitis	Associate	35839075
Epileptic Encephalopathy Early Infantile 4	Inhibit	24700782
Factor XIII Deficiency	Associate	26342041
Femur Head Necrosis	Associate	36813871
Fetal Death	Associate	20664396
Fibrosis	Stimulate	18300343
Fibrosis	Associate	29999587
Fuchs' Endothelial Dystrophy	Associate	31847785
Gaucher like disease	Associate	32609846
Genetic Diseases Inborn	Associate	18665926, 3133808, 3258663
Glaucoma	Associate	24954072
Glaucoma Open Angle	Associate	24954072
Glioblastoma	Associate	24868550, 27236861, 31991805
Glioma	Associate	29584591, 33545987
Glucosephosphate Dehydrogenase Deficiency	Associate	19008126
Glycogen Storage Disease XIV	Associate	30701557
Gray Platelet Syndrome	Associate	19410025
Hand Arm Vibration Syndrome	Stimulate	38302542
Heart Defects Congenital	Associate	22914812
Heart Diseases	Stimulate	15056828
Heart Failure	Associate	16185922, 34003485
Heart Valve Diseases	Stimulate	15056828
HELLP Syndrome	Associate	19190814
Hemolytic Uremic Syndrome	Associate	10397728, 15327386
Hemolytic Uremic Syndrome	Stimulate	33641611
Hemophilia A	Associate	10910913, 11918545, 15471879, 18691168, 19221656, 20374449, 25780857, 26244499, 2971673, 31026269, 3133808, 31350267, 33190257, 36775768, 37017006
Hemorrhage	Associate	11159522, 12080112, 15099289, 15226188, 16985174, 17109387, 17596142, 18041654, 18805962, 19172521, 19687512, 19959486, 20492463, 2104761, 22479377, 22792389, 23216583, 23311757, 23496210, 25477497, 25673639, 25832887, 26582038, 26862110, 26986123, 27414491, 28453889, 28544236, 28586149, 30645640, 31834934, 3257148, 32640909, 33385180, 34807970, 35143643, 35246944, 35343054, 35466528, 35521725, 35596664, 35741733, 35776905, 36121439, 37017006, 38040335, 3877533, 39510415, 40279514, 8282841, 8324222
Hemorrhage	Inhibit	33662989, 40434960
Hemorrhagic Disorders	Associate	2104761
Hemorrhoids	Associate	40114371
Hepatic Veno Occlusive Disease	Associate	21330458
Hepatitis Alcoholic	Associate	33954832
Hepatitis B Chronic	Inhibit	36002595
Hyaline Fibromatosis Syndrome	Associate	12973667
Hypersensitivity Immediate	Inhibit	11756169
Hypertension	Associate	35242298, 38103737, 9708474
Hyperthyroidism	Stimulate	34210154
Hypophosphatemic Rickets Autosomal Dominant	Associate	9389727
Hypoxia	Stimulate	33351148
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	31851564
Idiopathic Pulmonary Fibrosis	Associate	16936446, 31640794
IgA Vasculitis	Associate	9014604
Immune System Diseases	Associate	35875995
Immunologic Deficiency Syndromes	Associate	12406074, 35839075
Immunologic Deficiency Syndromes	Stimulate	20553378, 36991043
Immunologic Deficiency Syndromes	Inhibit	23058857, 28652401, 29357939
Inflammation	Associate	16458279, 18382655, 23440109, 26617700, 31210414, 32758992, 35521725, 40596471, 9014604
Inflammation	Stimulate	19812385
Inflammation	Inhibit	31824501
Inflammatory Bowel Diseases	Associate	25878173, 39969330
Intracranial Aneurysm	Stimulate	39215680
Invasive Pulmonary Aspergillosis	Associate	22731696
Ischemic Attack Transient	Associate	29385837
Ischemic Stroke	Associate	38296159
Jaundice	Associate	23058857
Kidney Diseases	Associate	10760079, 16771247
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	2385594
Kleine Levin Syndrome	Inhibit	35859339
Leiomyoma	Associate	36066972
Leishmaniasis	Associate	23440109
Leprosy	Associate	29565968
Leukemia Acute X Linked	Associate	16771247
Leukemia Myeloid Acute	Associate	33299888, 35935313
Livedoid Vasculopathy	Associate	35521725
Liver Cirrhosis	Inhibit	36002595
Liver Cirrhosis Biliary	Associate	40596471
Liver Diseases Alcoholic	Stimulate	33954832
Liver Failure	Stimulate	33991637
Long QT Syndrome	Associate	35001370
Lung Diseases	Associate	15467717, 32210548
Lung Diseases Interstitial	Associate	16936446
Lupus Erythematosus Systemic	Stimulate	25401491, 8572736
Lupus Erythematosus Systemic	Associate	34646335
Lupus Nephritis	Associate	27716443
Lymphangioleiomyomatosis	Associate	25133674
Lymphatic Metastasis	Associate	32196607
Lymphoma Mantle Cell	Associate	36359790
Macular Degeneration	Associate	29367644, 34620972
Malaria Cerebral	Associate	22168261
Melanoma	Associate	1707057, 20505748, 22032772, 2447074, 37258039
Menorrhagia	Associate	20381040, 34807970, 37017006
Mesothelioma Malignant	Associate	37832118
Metabolic Syndrome	Associate	25646961
Microvascular Angina	Associate	28652401, 35521725
Microvascular Angina	Stimulate	34966385
Mitral Valve Stenosis	Associate	24412254
Myasthenic Syndromes Congenital	Inhibit	16796708
Myocardial Infarction	Associate	11736957, 15670033, 16697311, 30366922
Myotonic Dystrophy	Associate	36507906
Neoplasm Invasiveness	Associate	11953822
Neoplasm Metastasis	Associate	15467717, 30279208, 39379897
Neoplasms	Associate	11676859, 11682459, 15467717, 18230189, 18369690, 23206928, 24222652, 24236063, 24868550, 27236861, 36641653, 38160725
Neoplasms	Inhibit	26056802
Neoplasms Basal Cell	Associate	11682459
Neoplasms Vascular Tissue	Associate	32234826
Neoplasms Vascular Tissue	Stimulate	36281781
Neoplastic Syndromes Hereditary	Associate	34237177
Neurofibromatoses	Associate	28453889
No Reflow Phenomenon	Associate	22163125
Obesity	Stimulate	14629465, 21481180
Obesity	Associate	38203423
Osteogenesis imperfecta type 2A	Associate	11159522, 17155947, 20351307, 23539537, 27532107
Osteogenesis imperfecta type 2B	Associate	17087728, 17155947, 21244826, 26206100, 27532107, 39343102, 8134377, 9723578
Osteogenesis imperfecta type 3	Associate	23539537
Osteoporosis	Stimulate	37203779
Osteosarcoma	Associate	15467717, 30279208
Ovarian Neoplasms	Associate	35735060
Pain	Associate	35033099
Pancreatitis	Associate	35745003
Pemphigus	Associate	39593117
Periodic fever familial autosomal dominant	Associate	37857225
Periodontitis	Associate	36072904
Peripheral Arterial Disease	Associate	24913105, 32847391
Peripheral Arterial Disease	Stimulate	29587258
Pituitary Neoplasms	Associate	24222652
Plaque Atherosclerotic	Associate	22982001
Platelet Aggregation Spontaneous	Associate	2932469
Platelet Storage Pool Deficiency	Associate	19172521
Polycystic Ovary Syndrome	Associate	19261277
Post Acute COVID 19 Syndrome	Associate	35875995, 36131342
Postpartum Thyroiditis	Associate	39343102
Pre Eclampsia	Associate	18598365
Pre Eclampsia	Stimulate	39735539
Preeclamptic toxemia	Stimulate	19190814
Pulmonary Arterial Hypertension	Associate	20808962
Pulmonary Disease Chronic Obstructive	Associate	32210548, 32731895, 32758992
Pulmonary Disease Chronic Obstructive	Stimulate	34479474
Pulmonary Embolism	Associate	30655285, 36064077
Pulmonary Fibrosis	Associate	34479474
Purpura Thrombocytopenic Idiopathic	Associate	36696209
Purpura Thrombotic Thrombocytopenic	Associate	10339486, 10397728, 11586351, 12393399, 12393505, 15327386, 15551280, 19786614, 20032502, 23058857, 23555663, 27236750, 32073234, 32365113, 35746657, 37689812
Raynaud Disease	Associate	38302542
Renal Insufficiency Chronic	Associate	16771247
Respiratory Distress Syndrome	Stimulate	31796023
Respiratory Distress Syndrome	Associate	32931480
Retinal Vein Occlusion	Inhibit	33356499
Sarcoma Kaposi	Stimulate	3258899
Schizophrenia	Associate	28974776
Scleral Diseases	Associate	33746571
Scleroatonic muscular dystrophy	Associate	20729548
Scleroderma Systemic	Associate	26360820
Sepsis	Stimulate	19812385
Severe Acute Respiratory Syndrome	Associate	36889591
Sleep Apnea Obstructive	Associate	31210414, 33351148
Spondylitis Ankylosing	Stimulate	40591022
Stomach Neoplasms	Associate	33178362, 39456895
Stroke	Associate	22257027, 28495826, 29685722, 31557676
Subarachnoid Hemorrhage	Associate	29077161
Thrombocythemia Essential	Associate	19508974
Thrombocytopenia	Associate	12637314, 16720832, 18805962, 25185554, 29734512, 3028536, 34942660, 35521725, 39343102, 40434960
Thrombocytopenia Neonatal Alloimmune	Associate	28436749
Thromboembolism	Stimulate	29685722
Thromboembolism	Associate	30366922, 33385180
Thrombophilia	Associate	32234826, 36696209, 38225453
Thrombosis	Associate	11418460, 14521605, 15056828, 15606555, 18826391, 23216583, 23383177, 23555663, 23648131, 28495826, 28652401, 31450612, 33107067, 33351148, 34685765, 35001370, 35246944, 35491445, 36813871, 36944974, 36980889, 37857225, 38203423, 38296159, 38320121, 39694444
Thrombosis	Stimulate	24412254
Thymoma	Associate	36991043
Thyroid Cancer Papillary	Associate	32196607
Thyroid Neoplasms	Associate	30272326
Tomaculous neuropathy	Associate	18055987, 25477497
Tomaculous neuropathy	Inhibit	35246944
Urinary Bladder Neoplasms	Associate	32234826, 35896848
Vascular Diseases	Associate	10868972, 22914812, 24182550, 25590623, 25592833, 31782253, 3258899, 32654420, 33107067, 33954832, 34003485, 35634344, 8847680, 9014604
Vascular System Injuries	Associate	12080112, 12714608, 12791651, 2011604, 20808962, 26368360, 30645640, 9014604
Venous Thromboembolism	Associate	20946148, 24804362, 25779970, 27742707, 37762110, 40374116
Venous Thromboembolism	Stimulate	38225166
Venous Thrombosis	Associate	20096009, 20682599, 21163921, 32314961, 34662354
Venous Thrombosis	Stimulate	30471183
Ventricular Dysfunction Left	Stimulate	24412254
Von Willebrand disease platelet type	Associate	12637314, 14521605, 15705799, 2052556, 27819553, 33550910, 3487353, 8384898, 9226170
von Willebrand Disease Type 1	Associate	10339461, 12649144, 1415226, 14525793, 15099289, 15226188, 16359504, 16634746, 16634747, 16835381, 16985174, 17090649, 17190853, 17488667, 18230755, 18315556, 18344424, 19286880, 20460340, 20492463, 21393328, 21711445, 22429825, 22792389, 23349392, 23355534, 23426949, 25673639, 26862110, 26986123, 27317792, 27533707, 27543438, 29389944, 31320553, 31834934, 33556167, 33662989, 35064738, 35151252, 35446929, 35505650, 36121439, 37168293, 38013388, 38040335, 3876122, 3877533, 8134377, 8839833, 8839848
von Willebrand Disease Type 1	Inhibit	18187661, 2317558, 27532107
von Willebrand Disease Type 2	Associate	10203106, 10706763, 12080112, 14630825, 14755371, 15219197, 15226181, 1537829, 1557393, 16247740, 16322474, 16420565, 16420575, 16702040, 16708129, 16720832, 1673047, 17087728, 1729889, 17456630, 17596142, 18725999, 18776767, 18805962, 19060241, 1912563, 19286880, 1967540, 19694940, 19951969, 2009368, 2010538, 2011604, 20118404, 20570857, 20586924, 21244826, 22207689, 22329792, 22479377, 22875612, 23216583, 23322777, 23496210, 23539537, 23621778, 2385594, 25477497, 26917779, 2786201, 28436749, 28544236, 2895123, 29186156, 29734512, 3028536, 313821, 31628947, 32573891, 32722784, 32803740, 3306682, 33550910, 33662989, 34758185, 3485111, 3490883, 34942660, 35452508, 35776905, 36580664, 39343102, 40298995, 7620154, 8123843, 8123844, 8338947, 8376405, 8639896, 9423819, 9490688, 9692396, 9723578, 9845532
von Willebrand Disease Type 2	Inhibit	1672694, 17155947, 20335223, 20351307, 40434960, 8338947
von Willebrand Disease Type 3	Associate	12637314, 14995987, 16720832, 1673793, 17371490, 18055987, 18665926, 19372260, 21362127, 22197721, 22431572, 2378985, 24675615, 25635880, 25780857, 25953977, 26986123, 27236750, 27414491, 28453889, 30936056, 31793247, 3258663, 34351388, 35092343, 35466528, 35491445, 36792472, 39756657, 40279514
von Willebrand Disease Type 3	Inhibit	25673639, 35343054
von Willebrand Diseases	Associate	10102532, 11159522, 11292185, 11756169, 12080112, 12393698, 12791651, 1409710, 1415226, 15226181, 16359504, 16420565, 1673047, 1673793, 17109387, 17155947, 1732004, 18230755, 18315556, 18344424, 18680527, 18725999, 1906877, 19286880, 19372260, 1967540, 19687512, 19694940, 19951969, 19959486, 20088930, 2010538, 20147343, 2018834, 20231421, 20335223, 20351307, 20460340, 20492463, 20570857, 20586924, 2104761, 21393328, 21596755, 22102194, 22207689, 22315491, 22429825, 22473027, 22479377, 22896002, 2297569, 23216583, 23322777, 23340442, 23355534, 23401896, 23426949, 23496210, 23539537, 23621778, 2378985, 23809112, 2385594, 24675615, 24750783, 2506947, 25185554, 25477497, 25673639, 25780857, 25810255, 25832887, 25953977, 26411913, 26917779, 26986123, 27317792, 27532107, 27533707, 2786201, 2804373, 28453889, 28544236, 28586149, 28971901, 29186156, 2932469, 29389944, 29423401, 2971673, 29734512, 29924855, 2994057, 29992156, 3033024, 30358069, 30361419, 30645640, 31240882, 31320553, 313821, 31628947, 31793247, 32073731, 3257148, 32573891, 32609846, 32640909, 32664776, 32803740, 3306682, 33190257, 33385180, 33424085, 33556167, 34828413, 3485111, 3487353, 3487357, 34948044, 35092343, 35104900, 35246944, 35466528, 35505650, 35521725, 35741733, 35776905, 36165954, 36754679, 37168293, 38013388, 38040335, 39454883, 39510415, 39756657, 40339962, 6605165, 6982283, 7620154, 8049421, 8324222, 8367445, 8602631, 8639896, 9423819, 9490688, 9723578, 9845532
von Willebrand Diseases	Inhibit	10339461, 20088930, 20381040, 2317558, 27533707, 35343054, 8839848, 9074430
von Willebrand Diseases	Stimulate	33663351
Von willebrand factor deficiency	Inhibit	14995987, 22429825
Von willebrand factor deficiency	Associate	14995987, 16835381, 19286880, 21596755, 22429825, 24646657, 39510415, 8839833
Waldenstrom Macroglobulinemia	Associate	22896002
Wilms Tumor	Associate	11292185