SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2)

Gene

• Entrez ID: 6655
• Gene name: SOS Ras/Rho guanine nucleotide exchange factor 2
• Gene symbol: SOS2
• Synonyms (NCBI Gene): NS9, SOS-2
• Chromosome: 14
• Chromosome location: 14q21.3
• Summary: This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs775506222	AAT>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs797045167	A>C,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869320687	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1594982548	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595001710	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019010	hsa-miR-335-5p	Microarray	18185580
MIRT023126	hsa-miR-124-3p	Microarray	18668037
MIRT046544	hsa-miR-1-3p	CLASH	23622248
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT653244	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32667746
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT1379986	hsa-miR-1179	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379988	hsa-miR-1245b-5p	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1379991	hsa-miR-1276	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380002	hsa-miR-199a-3p	CLIP-seq
MIRT1380003	hsa-miR-199b-3p	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380006	hsa-miR-204	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380009	hsa-miR-21	CLIP-seq
MIRT1380010	hsa-miR-211	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380012	hsa-miR-224	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT1380016	hsa-miR-3119	CLIP-seq
MIRT1380017	hsa-miR-3129-5p	CLIP-seq
MIRT1380018	hsa-miR-3140-3p	CLIP-seq
MIRT1380019	hsa-miR-3142	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380021	hsa-miR-330-3p	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380028	hsa-miR-3653	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380033	hsa-miR-383	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380038	hsa-miR-4311	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380040	hsa-miR-4511	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380045	hsa-miR-4680-5p	CLIP-seq
MIRT1380046	hsa-miR-4714-5p	CLIP-seq
MIRT1380047	hsa-miR-4753-5p	CLIP-seq
MIRT1380048	hsa-miR-4772-5p	CLIP-seq
MIRT1380049	hsa-miR-4773	CLIP-seq
MIRT1380050	hsa-miR-4793-5p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380054	hsa-miR-508-3p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380060	hsa-miR-548a-5p	CLIP-seq
MIRT1380061	hsa-miR-548ab	CLIP-seq
MIRT1380062	hsa-miR-548ak	CLIP-seq
MIRT1380063	hsa-miR-548b-3p	CLIP-seq
MIRT1380064	hsa-miR-548b-5p	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380066	hsa-miR-548c-5p	CLIP-seq
MIRT1380067	hsa-miR-548d-5p	CLIP-seq
MIRT1380068	hsa-miR-548h	CLIP-seq
MIRT1380069	hsa-miR-548i	CLIP-seq
MIRT1380070	hsa-miR-548j	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380072	hsa-miR-548l	CLIP-seq
MIRT1380073	hsa-miR-548w	CLIP-seq
MIRT1380074	hsa-miR-548y	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380076	hsa-miR-559	CLIP-seq
MIRT1380077	hsa-miR-562	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380080	hsa-miR-583	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380082	hsa-miR-590-5p	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380089	hsa-miR-936	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1553943	hsa-miR-193a-3p	CLIP-seq
MIRT1553944	hsa-miR-193b	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1553945	hsa-miR-892b	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT2113630	hsa-miR-135a	CLIP-seq
MIRT2113631	hsa-miR-135b	CLIP-seq
MIRT2113632	hsa-miR-154	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT2113633	hsa-miR-3123	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT2113635	hsa-miR-3925-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT2113636	hsa-miR-4274	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT2113637	hsa-miR-4493	CLIP-seq
MIRT2113638	hsa-miR-4519	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT2113639	hsa-miR-4524	CLIP-seq
MIRT2113640	hsa-miR-4635	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT2113641	hsa-miR-513b	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT2336553	hsa-miR-129-5p	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT2433367	hsa-miR-4744	CLIP-seq
MIRT2433368	hsa-miR-4760-3p	CLIP-seq
MIRT2433369	hsa-miR-548u	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT2433370	hsa-miR-598	CLIP-seq
MIRT2433371	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7629138, 14679214, 17474147, 19380743, 20936779, 21706016, 21988832, 28514442, 31980649, 33961781
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA

Other IDs

• MIM: 601247
• HGNC: 11188
• e!Ensembl: ENSG00000100485

Protein

• UniProt ID: Q07890
• Protein name: Son of sevenless homolog 2 (SOS-2)
• Protein function: Promotes the exchange of Ras-bound GDP by GTP.
• PDB: 6EIE, 8T5G, 8T5M, 8T5R, 8UC9, 8UF2, 8UH0, 9BVE, 9BVF, 9BVI, 9GIN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	54 → 169	Core histone H2A/H2B/H3/H4	Domain
  PF00621	RhoGEF	203 → 386	RhoGEF domain	Domain
  PF00169	PH	426 → 544	PH domain	Domain
  PF00618	RasGEF_N	598 → 715	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	781 → 960	RasGEF domain	Family

• Sequence:

  MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLC
  MAQPRTVQDVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGY
  KVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD
  IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDI
  EKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDI
  LSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWHYFELLKQLKA
  CSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKM
  NEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPG
  YSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALI
  SLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIK
  GGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLA
  IEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVR
  GKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPI
  EIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVEA
  ENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILD
  EAVELSQDHFKKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRR
  KVAEITGEIQQYQNQPYCLRIEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCK
  QPPRFPRKSTFSLKSPGIRPNTGRHGSTSGTLRGHPTPLEREPCKISFSRIAETELESTV
  SAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAPVLLPHSKSFFSSCGSLHKLS
  EEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVPVPTGAFDGPL
  HSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPS
  TPPSTPSPRVPRRCYVLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLY
  RLPLLENAETPQ

• Sequence length: 1332

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Male infertility due to gonadal dysgenesis or sperm disorder	Likely pathogenic	rs2503347123	RCV003991600
Noonan syndrome	Pathogenic; Likely pathogenic	rs869320687, rs797045167, rs1594982548, rs1595001710	RCV000845122 RCV001251214 RCV000845123 RCV000845124 RCV001251213
Noonan syndrome 1	Pathogenic	rs869320687	RCV003454490
Noonan syndrome 9	Pathogenic; Likely pathogenic	rs869320687, rs797045167, rs2502991901, rs1594982548, rs1595001710, rs1885777585	RCV000191030 RCV000191031 RCV002900123 RCV003755523 RCV001250768 RCV000699741 RCV003223414 RCV001250766 RCV001250767 RCV001250765
RASopathy	Likely pathogenic; Pathogenic	rs797045167, rs1595001710	RCV004732469 RCV001264473 RCV001269182
SOS2-related disorder	Likely pathogenic; Pathogenic	rs797045167	RCV003411629

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs865922330, rs759124324, rs376113934, rs773877975, rs775815870, rs766745289, rs1884934797, rs147513220, rs1457757510, rs8010578, rs543155109, rs777858898, rs751408063, rs768208805, rs756887073, rs1488158197, rs966907268, rs370600053, rs369410641, rs780152724, rs1468565433, rs750601074, rs1273822060, rs576277421, rs555945363, rs779413196, rs149487643, rs1885702697, rs770022419, rs538341032, rs1886005182, rs146283711, rs776909576, rs201265921, rs1203751748, rs1287471667, rs748480687, rs1884935096, rs781119008, rs772043913, rs1388854755, rs777300218, rs1460978115, rs766057658, rs950322034, rs545263131, rs553153992, rs2139528591, rs1364027643, rs200104745, rs1005498417, rs367970301, rs199898102, rs2139512774, rs774761716, rs1344396759, rs752525400, rs139401491, rs769787486, rs756711721, rs774571340, rs201756168, rs377290612, rs770603835, rs1392882497, rs747274422, rs201821194, rs764992819, rs756103351, rs746630297, rs753283972, rs2139550610, rs575983927, rs186110427, rs780772018, rs151074097, rs146527239, rs1375287247, rs762733592, rs769329817, rs746664310, rs757139228, rs1204583343, rs956839910, rs1195086721, rs1447097552, rs775973831, rs746956553, rs776046903, rs199651967, rs748361433, rs374642561, rs776266602, rs1343609817, rs776312082, rs150365706, rs1376460738, rs1050544302, rs1156744729, rs751147588, rs1885009611, rs1344304906, rs756565236, rs767732779, rs1033098930, rs761540894, rs1308740864, rs1248324702, rs1047180820, rs761849560, rs767257405, rs748607274, rs979918396, rs750291417, rs1317956888, rs2502820692, rs750958263, rs2502820444, rs1328697686, rs2502754411, rs2503346981, rs1224696199, rs1886467757, rs1164424709, rs759624286, rs2502757911, rs2502757823, rs1202582363, rs2502757647, rs2503186072, rs2502754683, rs1278728741, rs909240238, rs1435992315, rs2503347084, rs1408173955, rs1406410850, rs764819181, rs2503346990, rs2503002112, rs748384998, rs2502826565, rs1210330980, rs2502825027, rs2502768577, rs1480658842, rs769536087, rs746317294, rs2503185708, rs561507728, rs776470985, rs2503133819, rs770781571, rs2503134767, rs1371661748, rs745312007, rs767860335, rs756399613, rs2503001933, rs1189649465, rs758486167, rs1887533896, rs776163318, rs780580623, rs768171476, rs766413225, rs2503346760, rs2503104118, rs1461064079, rs754089853, rs1249312381, rs1885778521, rs1182163460, rs2503093384, rs1884941016, rs1886595806, rs2502990005, rs756469497, rs2502989420, rs368255404, rs2502991435, rs2502988361, rs1046033964, rs749445215, rs781172817, rs1884942246, rs1884940423, rs1299925470, rs765427688, rs2502982684, rs545506560, rs2502974910, rs2502974864, rs2502956106, rs901320697, rs775682587, rs770201536, rs1884614934, rs775192786, rs2502916916, rs2502916884, rs1269639034, rs2502982296, rs2139595351, rs375460863, rs750920712, rs147946741, rs2502942926, rs2502915448, rs547333457, rs2502886415, rs2502886403, rs370550495, rs1884167473, rs753057838, rs2502877621, rs376313150, rs774124555, rs2503193225, rs2502850272, rs753611130, rs776665041, rs1230328245, rs1884000065, rs1263023083, rs763932554, rs1202694189, rs373233749, rs373822788, rs1566477489, rs1886006209, rs773518472, rs2502759434, rs773047395, rs2502914186, rs553395791, rs930379934, rs768729855, rs779616236, rs1273541394, rs1376008170, rs765598266, rs1883999102, rs1229932733, rs202201300, rs1329009397, rs1883836729, rs1884930530, rs1344796129, rs373071240, rs781439593, rs1594958380, rs772673873, rs769868981, rs757528344, rs1232489201, rs749513697, rs752646105, rs1329000047, rs955430620, rs772587016, rs753546556, rs1163048019, rs2502990104, rs1885007465, rs2502825953, rs2503185669, rs1884929400, rs1015229594, rs779987434, rs1332283721, rs1415081233, rs2502758225, rs771910628, rs1594951435, rs2502768298, rs2503104384, rs1339562432, rs750732217, rs2502990276, rs967513997, rs887361070, rs372203654, rs886041929, rs776000121, rs1181118975, rs2502826482, rs1884940492, rs1157906294, rs2503193817, rs753725530, rs1340925625, rs2502826050, rs1372822403, rs962182717, rs2503133140, rs1884928904, rs1160004493, rs557498497, rs1884929703, rs2502758628, rs1393643553, rs1157071870, rs2502768422, rs2502914645, rs1884846243, rs2503209714, rs2503209313, rs781407108, rs2502974343, rs2502755424, rs2502915476, rs2502878370, rs1337021769, rs2502758194, rs1199524272, rs2227276, rs764908956, rs755233845, rs184739336, rs144584870, rs532833599, rs1433339408, rs1327675347, rs1412106864, rs1197421823, rs2502768214, rs2502824500, rs764636629, rs1474482034, rs1883401355, rs2502942889, rs1019575846, rs2502826307, rs2502992477, rs2502988139, rs1566831190, rs1373935531, rs1471245340, rs2502755092, rs1884932435, rs776758961, rs2502987934, rs2503209228, rs759817993, rs1595044675, rs2502851164, rs1165299325, rs2502826721, rs2502824417, rs2502768678, rs2502759017, rs2502756149, rs1887535959, rs2503347322, rs1228196409, rs2503104878, rs1885776291, rs2503346594, rs2503093855, rs1057518079, rs61755576, rs114711076, rs57179949, rs61755579, rs17122201, rs113460230, rs2229869, rs35530861, rs753151750, rs752871832, rs72681869, rs775506222, rs34139502, rs138133010, rs550680554, rs201696354, rs761442415, rs765945171, rs766470992, rs140995728, rs765097073, rs137961578, rs146802994, rs143166880, rs772746106, rs147109760, rs1030329651, rs751419448, rs111961549, rs35396088, rs561495878, rs750437794, rs373852615, rs762044455, rs149713664, rs1555370121, rs200387871, rs1273376869, rs542617984, rs150752193, rs369462490, rs146730136, rs568511771, rs201874067, rs778281839, rs375478974, rs1348457314, rs148747022, rs773672997, rs933544183, rs761320331, rs750095346, rs142863840, rs181275468, rs1051166055, rs777574895, rs146272145, rs761917783, rs113660113, rs116162949, rs1427742827, rs369267864, rs200208472, rs145848231, rs771839900, rs141575190, rs1803661, rs10658395, rs188355135, rs753698896, rs148595463, rs774402309, rs189555369, rs143427064, rs747521589, rs780697283, rs754778456, rs1329137002, rs527576404, rs539432390, rs1363925093, rs534384816, rs143332839, rs141214900, rs868005783, rs1391029692, rs1884941722, rs775494170, rs756637706, rs771269309, rs371598827, rs1419463844, rs147081547, rs778368766, rs765330931, rs200715068, rs779464455, rs935249167, rs758131262, rs762593451, rs372874114, rs780598157, rs745788940, rs58365465, rs1886594687, rs748632850, rs745812984, rs1231657921, rs143491566, rs2502991376, rs976486198, rs569343105, rs777771444, rs756940411, rs1163199209, rs761580972, rs1884941577, rs375244948, rs1208838203, rs565261873	RCV002357153 RCV002377404 RCV002322219 RCV004036561 RCV005742222 RCV004037007 RCV004037522 RCV002322435 RCV003169965 RCV003298653 RCV004671386 RCV004681170 RCV002358967 RCV005742237 RCV005493046 RCV002420994 RCV002414033 RCV002405043 RCV002432298 RCV002414082 RCV002396078 RCV004037436 RCV003298846 RCV002432371 RCV004037925 RCV002439214 RCV002343721 RCV005480778 RCV004040041 RCV004040794 RCV004671442 RCV006352414 RCV002359263 RCV005278893 RCV005742254 RCV005742388 RCV005742325 RCV002397901 RCV005493181 RCV004671507 RCV004046215 RCV002343932 RCV005742341 RCV004996066 RCV004041297 RCV002443015 RCV004044725 RCV002449581 RCV006357234 RCV002352773 RCV005742313 RCV004990549 RCV003170074 RCV003170075 RCV004039130 RCV002407101 RCV002343918 RCV003375391 RCV002458772 RCV002425187 RCV003170569 RCV005742339 RCV002346278 RCV003167254 RCV002343934 RCV005278943 RCV002441198 RCV003167033 RCV002425374 RCV002324226 RCV005483044 RCV004044851 RCV002440955 RCV004041990 RCV002422913 RCV002344142 RCV003375503 RCV005742363 RCV003166986 RCV004044057 RCV004039022 RCV006352611 RCV003170436 RCV004671461 RCV004041269 RCV006357217 RCV003161631 RCV003161676 RCV002382346 RCV002427666 RCV002391187 RCV002423307 RCV002398156 RCV002372949 RCV005493257 RCV002443141 RCV002382408 RCV003303760 RCV002443161 RCV004046287 RCV004990653 RCV004671638 RCV003303711 RCV003161343 RCV004045875 RCV002382462 RCV002382312 RCV004045814 RCV002454481 RCV005493254 RCV002361508 RCV005483102 RCV004671663 RCV002441255 RCV003308062 RCV004047395 RCV002325725 RCV002324786 RCV002454769 RCV002337585 RCV002357364 RCV002323328 RCV002443325 RCV002326583 RCV002326647 RCV002459242 RCV002452515 RCV002452583 RCV002452593 RCV002452694 RCV002355440 RCV002355552 RCV002333441 RCV002333609 RCV002333687 RCV002454687 RCV002452239 RCV002452315 RCV002375509 RCV002375633 RCV002332021 RCV002320545 RCV002320650 RCV002325005 RCV002325031 RCV002456977 RCV002456987 RCV002351026 RCV002373254 RCV002328344 RCV002338381 RCV002349469 RCV002358107 RCV002340472 RCV002351516 RCV002345155 RCV002347425 RCV002355966 RCV002335657 RCV002335900 RCV002394118 RCV002416826 RCV002434902 RCV002449625 RCV002377962 RCV002364993 RCV002365043 RCV002367364 RCV002447826 RCV002374132 RCV002367152 RCV002367239 RCV002396399 RCV002400544 RCV002373993 RCV002387837 RCV002383441 RCV002390031 RCV002398498 RCV002398539 RCV002405902 RCV002387559 RCV002414835 RCV002410320 RCV002385808 RCV002415312 RCV002415357 RCV002380633 RCV002383647 RCV002400871 RCV002400924 RCV002415006 RCV002412678 RCV002423663 RCV002423708 RCV002422031 RCV002459595 RCV002433049 RCV002419865 RCV002443665 RCV002448416 RCV002430839 RCV002430866 RCV002430929 RCV002410807 RCV002420148 RCV002417033 RCV002424090 RCV002425602 RCV002425781 RCV002455694 RCV002455761 RCV002428839 RCV002437308 RCV002428922 RCV002441638 RCV002439514 RCV002440087 RCV002439253 RCV002439829 RCV002444186 RCV002444291 RCV002435074 RCV002435474 RCV002435895 RCV002442097 RCV005744596 RCV004992460 RCV004070281 RCV005495459 RCV004992468 RCV006342777 RCV003377868 RCV004073178 RCV005495474 RCV003294499 RCV004073359 RCV003377901 RCV004068874 RCV005495496 RCV004992553 RCV004673828 RCV004992569 RCV003375648 RCV005742468 RCV006357507 RCV003308245 RCV004673710 RCV004064924 RCV003167831 RCV004990900 RCV004066192 RCV005495414 RCV004990895 RCV003170642 RCV003170571 RCV005744567 RCV003170589 RCV004673742 RCV005495430 RCV003170774 RCV005281283 RCV003308409 RCV003308422 RCV004990972 RCV004068734 RCV004992450 RCV004097339 RCV004093885 RCV004100352 RCV004126590 RCV004154054 RCV003181555 RCV003181556 RCV003181557 RCV003168234 RCV003181558 RCV003181559 RCV003181560 RCV003168235 RCV003168236 RCV003181561 RCV003181562 RCV003181563 RCV004261256 RCV004285610 RCV004992140 RCV004678657 RCV002436096 RCV004306013 RCV004320533 RCV003301372 RCV003301374 RCV003301375 RCV003301376 RCV003301377 RCV003301378 RCV003301379 RCV003301380 RCV003301381 RCV004334108 RCV003386598 RCV003380185 RCV003380186 RCV003380187 RCV003380188 RCV003380189 RCV003380190 RCV003380191 RCV003380192 RCV003380193 RCV004364016 RCV004358956 RCV004353091 RCV004362549 RCV004992600 RCV005485403 RCV005495568 RCV005495578 RCV005485422 RCV004673916 RCV004992639 RCV004992644 RCV004369188 RCV006343033 RCV005281424 RCV005744703 RCV005744702 RCV004369446 RCV004371451 RCV004992698 RCV004371792 RCV005485499 RCV004374168 RCV004992786 RCV005281475 RCV004992801 RCV004676295 RCV004369509 RCV004369564 RCV004457482 RCV004457483 RCV004457484 RCV004457486 RCV004457487 RCV004517225 RCV004517226 RCV004517227 RCV004517228 RCV004517229 RCV004517230 RCV004517231 RCV004517232 RCV004517233 RCV004517234 RCV004517235 RCV004517236 RCV004517237 RCV004517238 RCV004517239 RCV004517240 RCV004517241 RCV004517242 RCV004517243 RCV004517244 RCV004517245 RCV005492821 RCV002365451 RCV003168619 RCV004022272 RCV002429417 RCV002365514 RCV002393023 RCV002356584 RCV002356567 RCV002429401 RCV002379364 RCV002455928 RCV005278572 RCV002350134 RCV005480380 RCV003159656 RCV004678750 RCV002325091 RCV002448788 RCV002431705 RCV002438485 RCV004024344 RCV002358610 RCV002456251 RCV002350385 RCV002367952 RCV002456250 RCV002438486 RCV002367953 RCV002395476 RCV003159933 RCV002420524 RCV002431706 RCV002456289 RCV002431764 RCV002413740 RCV002377261 RCV002358734 RCV002456385 RCV002438559 RCV004025259 RCV005742088 RCV002440369 RCV004992447 RCV002440370 RCV002325312 RCV002424535 RCV004992446 RCV002458147 RCV004025886 RCV003303104 RCV004026166 RCV004026199 RCV002458295 RCV004993964 RCV006342484 RCV002458207 RCV003307542 RCV003166336 RCV004028653 RCV004994008 RCV004994025 RCV002332581 RCV004994035 RCV002458466 RCV002346014 RCV002454049 RCV002444964 RCV002399953 RCV002409117 RCV002372495 RCV002363287 RCV005278684 RCV002320046 RCV002320051 RCV002416069 RCV003169210 RCV002390996 RCV002409252 RCV002354841 RCV003169453 RCV002346166 RCV004028435 RCV003372906 RCV002346057 RCV002444983 RCV005492901 RCV002427293 RCV002354836 RCV002454147 RCV005742136 RCV004029686 RCV002434391 RCV004030701 RCV003160252 RCV003160328 RCV003380843 RCV002416379 RCV002379633 RCV004994202 RCV006347441 RCV002411671 RCV005492953 RCV006347442 RCV002418648 RCV004032406 RCV004994339 RCV006347534 RCV005492969 RCV002451466 RCV004671250 RCV005742192 RCV004033192 RCV002436877 RCV003163756 RCV002357039 RCV004994363 RCV002393667 RCV004035328 RCV002411920 RCV002402803 RCV002379963 RCV004994379 RCV004035418 RCV004035426 RCV002339703 RCV002451633 RCV004035579 RCV003166742 RCV005492992 RCV002447309 RCV002456395 RCV005278795
Cervical cancer	Benign	rs17715073	RCV005901596
Clear cell carcinoma of kidney	Benign; Likely benign	rs111961549	RCV005897172
Congenital heart disease	Conflicting classifications of pathogenicity	rs781687371	RCV005626565
Developmental disorder	Likely benign	rs2139595006	RCV001843767
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs755580745	RCV004560063
Familial cancer of breast	Likely benign	rs552609367	RCV005907203
Gastric cancer	Benign	rs1955930, rs17715073	RCV005901579 RCV005901597
Hepatocellular carcinoma	Benign	rs1955930, rs12892681, rs1014879	RCV005901578 RCV005901584 RCV005901581
Lung cancer	Benign	rs17715073	RCV005901599
Malignant lymphoma, large B-cell, diffuse	Benign	rs12892681	RCV005901585
Malignant tumor of esophagus	Benign	rs17715073	RCV005901595
Melanoma	Benign; Likely benign	rs111961549	RCV005897173
Noonan syndrome and Noonan-related syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs201957103, rs1488158197, rs555945363, rs201265921, rs1203751748, rs1887534256, rs144391749, rs57179949, rs61755579, rs17122201, rs113460230, rs72681869, rs138133010, rs765945171, rs765097073, rs137961578, rs10658395, rs35396088, rs149713664, rs200387871, rs200368064, rs146730136, rs144584870, rs1208838203	RCV001813597 RCV001813598 RCV001813601 RCV001813626 RCV001813716 RCV001813717 RCV001813478 RCV001813482 RCV001813479 RCV001813483 RCV001813480 RCV001813488 RCV001813501 RCV001813498 RCV001813500 RCV001813502 RCV001813499 RCV001813503 RCV001813529 RCV001813518 RCV001813537 RCV001813538 RCV001813539 RCV001813564 RCV001813566 RCV001813589
Sarcoma	Likely benign	rs115187506	RCV005915084
See cases	Uncertain significance	rs2139595245, rs753057838	RCV002252504 RCV003128457
Thymoma	Benign	rs17715073	RCV005901598
Uterine carcinosarcoma	Benign	rs1955930	RCV005901580
Uterine corpus endometrial carcinoma	Likely benign	rs73283406, rs115187506	RCV005918947 RCV005915085

Associations from Text Mining
Disease Name	Relationship Type	References
Chronic Periodontitis	Associate	24347629
Heart Defects Congenital	Associate	32788663
Heart Diseases	Associate	32788663
Hemochromatosis	Associate	23761422
Hydrops Fetalis	Associate	36959127
Laron Syndrome	Associate	34136918
Leukemia Lymphoma Adult T Cell	Associate	37832654
Lymphatic Abnormalities	Associate	32788663, 35979676
Lymphatic Diseases	Associate	32788663
Noonan Syndrome	Associate	32788663, 34136918
Turner Syndrome	Associate	23761422