UBR4 (ubiquitin protein ligase E3 component n-recognin 4)

Gene

• Entrez ID: 23352
• Gene name: Ubiquitin protein ligase E3 component n-recognin 4
• Gene symbol: UBR4
• Synonyms: RBAF600, ZUBR1, p600
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144709443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs747867083	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs748323629	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs761960636	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs776593168	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020486	hsa-miR-155-5p	Proteomics	18668040
MIRT021907	hsa-miR-128-3p	Sequencing	20371350
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT050176	hsa-miR-26a-5p	CLASH	23622248
MIRT045339	hsa-miR-185-5p	CLASH	23622248
MIRT043973	hsa-miR-378a-5p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT037272	hsa-miR-877-5p	CLASH	23622248
MIRT037028	hsa-miR-877-3p	CLASH	23622248
MIRT050176	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT726189	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT1471481	hsa-miR-103b	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471484	hsa-miR-135a	CLIP-seq
MIRT1471485	hsa-miR-135b	CLIP-seq
MIRT1471486	hsa-miR-138	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471492	hsa-miR-3940-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT1471494	hsa-miR-4507	CLIP-seq
MIRT1471495	hsa-miR-548q	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT1471498	hsa-miR-767-5p	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq
MIRT2362560	hsa-miR-103a	CLIP-seq
MIRT2362561	hsa-miR-107	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT2362562	hsa-miR-1471	CLIP-seq
MIRT2362563	hsa-miR-155	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT2362564	hsa-miR-324-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2362565	hsa-miR-658	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16061792, 22810586, 23932781, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	23932781
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23932781
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 609890
• HGNC: 30313
• e!Ensembl: ENSG00000127481

Protein

• UniProt ID: Q5T4S7
• Protein name: E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (p600) (N-recognin-4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600)
• Protein function: E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm (PubMed:25582440, PubMed:29033132, PubMed:34893540, PubMed:37891180, PubMed:38030679, PubMed:38182926, PubMed:38297121). Component of the N-end r
• PDB: 8B5W, 8BTL, 8J9Q, 8J9R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02207	zf-UBR	1661 → 1726	Putative zinc finger in N-recognin (UBR box)	Family
  PF13764	E3_UbLigase_R4	4367 → 5163	E3 ubiquitin-protein ligase UBR4	Family

• Sequence:

  MATSGGEEAAAAAPAPGTPATGADTTPGWEVAVRPLLSASYSAFEMKELPQLVASVIESE
  SEILHHEKQYEPFYSSFVALSTHYITTVCSLIPRNQLQSVAAACKVLIEFSLLRLENPDE
  ACAVSQKHLILLIKGLCTGCSRLDRTEIITFTAMMKSAKLPQTVKTLSDVEDQKELASPV
  SPELRQKEVQMNFLNQLTSVFNPRTVASQPISTQTLVEGENDEQSSTDQASAIKTKNVFI
  AQNVASLQELGGSEKLLRVCLNLPYFLRYINRFQDAVLANSFFIMPATVADATAVRNGFH
  SLVIDVTMALDTLSLPVLEPLNPSRLQDVTVLSLSCLYAGVSVATCMAILHVGSAQQVRT
  GSTSSKEDDYESDAATIVQKCLEIYDMIGQAISSSRRAGGEHYQNFQLLGAWCLLNSLFL
  ILNLSPTALADKGKEKDPLAALRVRDILSRTKEGVGSPKLGPGKGHQGFGVLSVILANHA
  IKLLTSLFQDLQVEALHKGWETDGPPAALSIMAQSTSIQRIQRLIDSVPLMNLLLTLLST
  SYRKACVLQRQRKGSMSSDASASTDSNTYYEDDFSSTEEDSSQDDDSEPILGQWFEETIS
  PSKEKAAPPPPPPPPPLESSPRVKSPSKQAPGEKGNILASRKDPELFLGLASNILNFITS
  SMLNSRNNFIRNYLSVSLSEHHMATLASIIKEVDKDGLKGSSDEEFAAALYHFNHSLVTS
  DLQSPNLQNTLLQQLGVAPFSEGPWPLYIHPQSLSVLSRLLLIWQHKASAQGDPDVPECL
  KVWDRFLSTMKQNALQGVVPSETEDLNVEHLQMLLLIFHNFTETGRRAILSLFVQIIQEL
  SVNMDAQMRFVPLILARLLLIFDYLLHQYSKAPVYLFEQVQHNLLSPPFGWASGSQDSNS
  RRATTPLYHGFKEVEENWSKHFSSDAVPHPRFYCVLSPEASEDDLNRLDSVACDVLFSKL
  VKYDELYAALTALLAAGSQLDTVRRKENKNVTALEACALQYYFLILWRILGILPPSKTYI
  NQLSMNSPEMSECDILHTLRWSSRLRISSYVNWIKDHLIKQGMKAEHASSLLELASTTKC
  SSVKYDVEIVEEYFARQISSFCSIDCTTILQLHEIPSLQSIYTLDAAISKVQVSLDEHFS
  KMAAETDPHKSSEITKNLLPATLQLIDTYASFTRAYLLQNFNEEGTTEKPSKEKLQGFAA
  VLAIGSSRCKANTLGPTLVQNLPSSVQTVCESWNNINTNEFPNIGSWRNAFANDTIPSES
  YISAVQAAHLGTLCSQSLPLAASLKHTLLSLVRLTGDLIVWSDEMNPPQVIRTLLPLLLE
  SSTESVAEISSNSLERILGPAESDEFLARVYEKLITGCYNILANHADPNSGLDESILEEC
  LQYLEKQLESSQARKAMEEFFSDSGELVQIMMATANENLSAKFCNRVLKFFTKLFQLTEK
  SPNPSLLHLCGSLAQLACVEPVRLQAWLTRMTTSPPKDSDQLDVIQENRQLLQLLTTYIV
  RENSQVGEGVCAVLLGTLTPMATEMLANGDGTGFPELMVVMATLASAGQGAGHLQLHNAA
  VDWLSRCKKYLSQKNVVEKLNANVMHGKHVMILECTCHIMSYLADVTNALSQSNGQGPSH
  LSVDGEERAIEVDSDWVEELAVEEEDSQAEDSDEDSLCNKLCTFTITQKEFMNQHWYHCH
  TCKMVDGVGVCTVCAKVCHKDHEISYAKYGSFFCDCGAKEDGSCLALVKRTPSSGMSSTM
  KESAFQSEPRISESLVRHASTSSPADKAKVTISDGKVADEEKPKKSSLCRTVEGCREELQ
  NQANFSFAPLVLDMLNFLMDAIQTNFQQASAVGSSSRAQQALSELHTVEKAVEMTDQLMV
  PTLGSQEGAFENVRMNYSGDQGQTIRQLISAHVLRRVAMCVLSSPHGRRQHLAVSHEKGK
  ITVLQLSALLKQADSSKRKLTLTRLASAPVPFTVLSLTGNPCKEDYLAVCGLKDCHVLTF
  SSSGSVSDHLVLHPQLATGNFIIKAVWLPGSQTELAIVTADFVKIYDLCVDALSPTFYFL
  LPSSKIRDVTFLFNEEGKNIIVIMSSAGYIYTQLMEEASSAQQGPFYVTNVLEINHEDLK
  DSNSQVAGGGVSVYYSHVLQMLFFSYCQGKSFAATISRTTLEVLQLFPINIKSSNGGSKT
  SPALCQWSEVMNHPGLVCCVQQTTGVPLVVMVKPDTFLIQEIKTLPAKAKIQDMVAIRHT
  ACNEQQRTTMILLCEDGSLRIYMANVENTSYWLQPSLQPSSVISIMKPVRKRKTATITTR
  TSSQVTFPIDFFEHNQQLTDVEFGGNDLLQVYNAQQIKHRLNSTGMYVANTKPGGFTIEI
  SNNNSTMVMTGMRIQIGTQAIERAPSYIEIFGRTMQLNLSRSRWFDFPFTREEALQADKK
  LNLFIGASVDPAGVTMIDAVKIYGKTKEQFGWPDEPPEEFPSASVSNICPSNLNQSNGTG
  DSDSAAPTTTSGTVLERLVVSSLEALESCFAVGPIIEKERNKNAAQELATLLLSLPAPAS
  VQQQSKSLLASLHTSRSAYHSHKDQALLSKAVQCLNTSSKEGKDLDPEVFQRLVITARSI
  AIMRPNNLVHFTESKLPQMETEGMDEGKEPQKQLEGDCCSFITQLVNHFWKLHASKPKNA
  FLAPACLPGLTHIEATVNALVDIIHGYCTCELDCINTASKIYMQMLLCPDPAVSFSCKQA
  LIRVLRPRNKRRHVTLPSSPRSNTPMGDKDDDDDDDADEKMQSSGIPNGGHIRQESQEQS
  EVDHGDFEMVSESMVLETAENVNNGNPSPLEALLAGAEGFPPMLDIPPDADDETMVELAI
  ALSLQQDQQGSSSSALGLQSLGLSGQAPSSSSLDAGTLSDTTASAPASDDEGSTAATDGS
  TLRTSPADHGGSVGSESGGSAVDSVAGEHSVSGRSSAYGDATAEGHPAGPGSVSSSTGAI
  STTTGHQEGDGSEGEGEGETEGDVHTSNRLHMVRLMLLERLLQTLPQLRNVGGVRAIPYM
  QVILMLTTDLDGEDEKDKGALDNLLSQLIAELGMDKKDVSKKNERSALNEVHLVVMRLLS
  VFMSRTKSGSKSSICESSSLISSATAAALLSSGAVDYCLHVLKSLLEYWKSQQNDEEPVA
  TSQLLKPHTTSSPPDMSPFFLRQYVKGHAADVFEAYTQLLTEMVLRLPYQIKKITDTNSR
  IPPPVFDHSWFYFLSEYLMIQQTPFVRRQVRKLLLFICGSKEKYRQLRDLHTLDSHVRGI
  KKLLEEQGIFLRASVVTASSGSALQYDTLISLMEHLKACAEIAAQRTINWQKFCIKDDSV
  LYFLLQVSFLVDEGVSPVLLQLLSCALCGSKVLAALAASSGSSSASSSSAPVAASSGQAT
  TQSKSSTKKSKKEEKEKEKDGETSGSQEDQLCTALVNQLNKFADKETLIQFLRCFLLESN
  SSSVRWQAHCLTLHIYRNSSKSQQELLLDLMWSIWPELPAYGRKAAQFVDLLGYFSLKTP
  QTEKKLKEYSQKAVEILRTQNHILTNHPNSNIYNTLSGLVEFDGYYLESDPCLVCNNPEV
  PFCYIKLSSIKVDTRYTTTQQVVKLIGSHTISKVTVKIGDLKRTKMVRTINLYYNNRTVQ
  AIVELKNKPARWHKAKKVQLTPGQTEVKIDLPLPIVASNLMIEFADFYENYQASTETLQC
  PRCSASVPANPGVCGNCGENVYQCHKCRSINYDEKDPFLCNACGFCKYARFDFMLYAKPC
  CAVDPIENEEDRKKAVSNINTLLDKADRVYHQLMGHRPQLENLLCKVNEAAPEKPQDDSG
  TAGGISSTSASVNRYILQLAQEYCGDCKNSFDELSKIIQKVFASRKELLEYDLQQREAAT
  KSSRTSVQPTFTASQYRALSVLGCGHTSSTKCYGCASAVTEHCITLLRALATNPALRHIL
  VSQGLIRELFDYNLRRGAAAMREEVRQLMCLLTRDNPEATQQMNDLIIGKVSTALKGHWA
  NPDLASSLQYEMLLLTDSISKEDSCWELRLRCALSLFLMAVNIKTPVVVENITLMCLRIL
  QKLIKPPAPTSKKNKDVPVEALTTVKPYCNEIHAQAQLWLKRDPKASYDAWKKCLPIRGI
  DGNGKAPSKSELRHLYLTEKYVWRWKQFLSRRGKRTSPLDLKLGHNNWLRQVLFTPATQA
  ARQAACTIVEALATIPSRKQQVLDLLTSYLDELSIAGECAAEYLALYQKLITSAHWKVYL
  AARGVLPYVGNLITKEIARLLALEEATLSTDLQQGYALKSLTGLLSSFVEVESIKRHFKS
  RLVGTVLNGYLCLRKLVVQRTKLIDETQDMLLEMLEDMTTGTESETKAFMAVCIETAKRY
  NLDDYRTPVFIFERLCSIIYPEENEVTEFFVTLEKDPQQEDFLQGRMPGNPYSSNEPGIG
  PLMRDIKNKICQDCDLVALLEDDSGMELLVNNKIISLDLPVAEVYKKVWCTTNEGEPMRI
  VYRMRGLLGDATEEFIESLDSTTDEEEDEEEVYKMAGVMAQCGGLECMLNRLAGIRDFKQ
  GRHLLTVLLKLFSYCVKVKVNRQQLVKLEMNTLNVMLGTLNLALVAEQESKDSGGAAVAE
  QVLSIMEIILDESNAEPLSEDKGNLLLTGDKDQLVMLLDQINSTFVRSNPSVLQGLLRII
  PYLSFGEVEKMQILVERFKPYCNFDKYDEDHSGDDKVFLDCFCKIAAGIKNNSNGHQLKD
  LILQKGITQNALDYMKKHIPSAKNLDADIWKKFLSRPALPFILRLLRGLAIQHPGTQVLI
  GTDSIPNLHKLEQVSSDEGIGTLAENLLEALREHPDVNKKIDAARRETRAEKKRMAMAMR
  QKALGTLGMTTNEKGQVVTKTALLKQMEELIEEPGLTCCICREGYKFQPTKVLGIYTFTK
  RVALEEMENKPRKQQGYSTVSHFNIVHYDCHLAAVRLARGREEWESAALQNANTKCNGLL
  PVWGPHVPESAFATCLARHNTYLQECTGQREPTYQLNIHDIKLLFLRFAMEQSFSADTGG
  GGRESNIHLIPYIIHTVLYVLNTTRATSREEKNLQGFLEQPKEKWVESAFEVDGPYYFTV
  LALHILPPEQWRATRVEILRRLLVTSQARAVAPGGATRLTDKAVKDYSAYRSSLLFWALV
  DLIYNMFKKVPTSNTEGGWSCSLAEYIRHNDMPIYEAADKALKTFQEEFMPVETFSEFLD
  VAGLLSEITDPESFLKDLLNSVP

• Sequence length: 5183

Pathways

KEGG:

Human papillomavirus infection
Viral carcinogenesis

Reactome:

Neutrophil degranulation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Episodic ataxia	Episodic Ataxia	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236, rs137852619, rs137852620, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs113994120, rs387906683, rs387906686, rs121908240, rs121908247, rs121908243, rs121908228, rs786200962, rs794727411, rs1553463427, rs796053166, rs121917753, rs1064794808, rs1555755977, rs1064794262, rs1064794263, rs1085308020, rs1553579488, rs746790849, rs1555762869, rs1555085761, rs1555085798, rs1555740805, rs1553578503, rs1555738369, rs1555751762, rs1315533129, rs1568473171, rs1568473233, rs1568493323, rs774224202, rs1568514371, rs1600272344, rs1600139781, rs1599294284, rs1600088360, rs374686479, rs1574571769, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs1600271575, rs1600180659, rs1702008435	23982692
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050