RBBP8 (RB binding protein 8, endonuclease)

Gene

• Entrez ID: 5932
• Gene name: RB binding protein 8, endonuclease
• Gene symbol: RBBP8
• Synonyms: COM1, CTIP, JAWAD, JWDS, RIM, SAE2, SCKL2
• Chromosome: 18
• Chromosome location: 18q11.2
• Summary: The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTB

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434388	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs373804633	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587776883	T>G	Pathogenic	Intron variant
rs587776884	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780432	G>T	Pathogenic	Splice donor variant
rs762396810	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1064796899	C>T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019821	hsa-miR-375	Microarray	20215506
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT079744	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT079745	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT1293978	hsa-miR-1237	CLIP-seq
MIRT1293979	hsa-miR-1248	CLIP-seq
MIRT1293980	hsa-miR-130a	CLIP-seq
MIRT1293981	hsa-miR-130b	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293983	hsa-miR-18a	CLIP-seq
MIRT1293984	hsa-miR-18b	CLIP-seq
MIRT1293985	hsa-miR-19a	CLIP-seq
MIRT1293986	hsa-miR-19b	CLIP-seq
MIRT1293987	hsa-miR-205	CLIP-seq
MIRT1293988	hsa-miR-301a	CLIP-seq
MIRT1293989	hsa-miR-301b	CLIP-seq
MIRT1293990	hsa-miR-3182	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293993	hsa-miR-3646	CLIP-seq
MIRT1293994	hsa-miR-3662	CLIP-seq
MIRT1293995	hsa-miR-3666	CLIP-seq
MIRT1293996	hsa-miR-4295	CLIP-seq
MIRT1293997	hsa-miR-454	CLIP-seq
MIRT1293998	hsa-miR-4652-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294000	hsa-miR-4698	CLIP-seq
MIRT1294001	hsa-miR-4735-3p	CLIP-seq
MIRT1294002	hsa-miR-4793-5p	CLIP-seq
MIRT1294003	hsa-miR-518a-3p	CLIP-seq
MIRT1294004	hsa-miR-518b	CLIP-seq
MIRT1294005	hsa-miR-518c	CLIP-seq
MIRT1294006	hsa-miR-518d-3p	CLIP-seq
MIRT1294007	hsa-miR-518f	CLIP-seq
MIRT1294008	hsa-miR-548a-3p	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294011	hsa-miR-548ac	CLIP-seq
MIRT1294012	hsa-miR-548ae	CLIP-seq
MIRT1294013	hsa-miR-548aj	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294015	hsa-miR-548am	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294018	hsa-miR-548d-3p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294020	hsa-miR-548e	CLIP-seq
MIRT1294021	hsa-miR-548f	CLIP-seq
MIRT1294022	hsa-miR-548g	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294028	hsa-miR-548m	CLIP-seq
MIRT1294029	hsa-miR-548p	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294031	hsa-miR-548x	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294033	hsa-miR-548z	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
YBX1	Repression	20596676
ZNF350	Unknown	20713352

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA	21873635
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IMP	18716619, 19202191
GO:0000403	Function	Y-form DNA binding	IBA	21873635
GO:0000406	Function	Double-strand/single-strand DNA junction binding	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS
GO:0000729	Process	DNA double-strand break processing	TAS
GO:0001103	Function	RNA polymerase II repressing transcription factor binding	IPI	16287852
GO:0003684	Function	Damaged DNA binding	IBA	21873635
GO:0003684	Function	Damaged DNA binding	IDA	18716619
GO:0003690	Function	Double-stranded DNA binding	IBA	21873635
GO:0003697	Function	Single-stranded DNA binding	IBA	21873635
GO:0003714	Function	Transcription corepressor activity	IDA	16287852
GO:0005515	Function	Protein binding	IPI	9811458, 10779361, 11739404, 11751867, 16287852, 17525340, 18285836, 18716619, 19369211, 19759395, 21052091, 22565321, 22773103, 25558984, 26807646, 27561354, 28834754, 29042561, 29656893
GO:0005634	Component	Nucleus	TAS	10764811
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	TAS	10764811
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10764811
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IBA	21873635
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IMP	18716619, 19202191
GO:0017053	Component	Transcription repressor complex	IDA	16287852
GO:0035861	Component	Site of double-strand break	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	25558984
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IEA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:0070336	Function	Flap-structured DNA binding	IBA	21873635
GO:0090305	Process	Nucleic acid phosphodiester bond hydrolysis	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 604124
• HGNC: 9891
• e!Ensembl: ENSG00000101773

Protein

• UniProt ID: Q99708
• Protein name: DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2)
• Protein function: Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, Pu
• PDB: 1Y98, 2L4Z, 4D2H, 7BGF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10482	CtIP_N	20 → 139	Tumour-suppressor protein CtIP N-terminal domain	Coiled-coil
  PF08573	SAE2	822 → 858	DNA repair protein endonuclease SAE2/CtIP C-terminus	Family

• Sequence:

  MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFF
  TKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITEL
  MNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKE
  NPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHG
  TSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTR
  NTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLK
  TLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQN
  RTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFS
  MNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASD
  GNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVL
  DDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPG
  ADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKM
  NDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPY
  FKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRF
  RYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT

• Sequence length: 897

Pathways

KEGG:

Homologous recombination

Reactome:

HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Transcriptional Regulation by E2F6

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Jawad syndrome	Jawad syndrome	rs587776884
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly, Primary microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Myasthenia gravis	Myasthenia Gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	26562150
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seckel syndrome	Seckel syndrome, SECKEL SYNDROME 2	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	21998596, 21998596, 24389050

Unknown
Disease name	Disease term	dbSNP ID	References
Benign tumor of pancreas	Benign tumor of pancreas
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital microcephaly	Congenital microcephaly
Dwarfism	Dwarfism
Hypospadias	Hypospadias
Impaired cognition	Impaired cognition
Microcephaly-digital anomalies syndrome	microcephaly-digital anomalies syndrome		11781686
Microdontia	Microdontia (disorder)
Microglossia	Microglossia
Micrognathism	Micrognathism
Pancreatic neoplasm	Pancreatic Neoplasm
Pancreatic carcinoma	Pancreatic carcinoma