PRKDC (protein kinase, DNA-activated, catalytic subunit)

Gene

• Entrez ID: 5591
• Gene name: Protein kinase, DNA-activated, catalytic subunit
• Gene symbol: PRKDC
• Synonyms: DNA-PKC, DNA-PKcs, DNAPK, DNAPKc, DNPK1, HYRC, HYRC1, IMD26, S473K, XRCC7, p350
• Chromosome: 8
• Chromosome location: 8q11.21
• Summary: This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs191531119	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200729621	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202110076	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372587440	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs375277772	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs546905091	TT>-,T,TTT,TTTT	Pathogenic	Intron variant
rs587777685	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777686	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005558	hsa-miR-101-5p	Luciferase reporter assay, qRT-PCR	20617180
MIRT005558	hsa-miR-101-5p	Luciferase reporter assay, qRT-PCR	20617180
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT736402	hsa-miR-101-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	33226571
MIRT439897	hsa-miR-218-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33759399
MIRT1263582	hsa-miR-103a	CLIP-seq
MIRT1263583	hsa-miR-107	CLIP-seq
MIRT1263584	hsa-miR-1237	CLIP-seq
MIRT1263585	hsa-miR-1248	CLIP-seq
MIRT1263586	hsa-miR-1262	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263589	hsa-miR-1301	CLIP-seq
MIRT1263590	hsa-miR-1323	CLIP-seq
MIRT1263591	hsa-miR-136	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT1263593	hsa-miR-2116	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263595	hsa-miR-3065-5p	CLIP-seq
MIRT1263596	hsa-miR-3123	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263599	hsa-miR-3163	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263602	hsa-miR-320a	CLIP-seq
MIRT1263603	hsa-miR-320b	CLIP-seq
MIRT1263604	hsa-miR-320c	CLIP-seq
MIRT1263605	hsa-miR-320d	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT1263607	hsa-miR-3662	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263609	hsa-miR-4273	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263611	hsa-miR-4429	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263615	hsa-miR-4637	CLIP-seq
MIRT1263616	hsa-miR-4677-5p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263618	hsa-miR-4701-3p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT1263622	hsa-miR-4777-5p	CLIP-seq
MIRT1263623	hsa-miR-4788	CLIP-seq
MIRT1263624	hsa-miR-488	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263627	hsa-miR-5047	CLIP-seq
MIRT1263628	hsa-miR-518d-5p	CLIP-seq
MIRT1263629	hsa-miR-519b-5p	CLIP-seq
MIRT1263630	hsa-miR-519c-5p	CLIP-seq
MIRT1263631	hsa-miR-520c-5p	CLIP-seq
MIRT1263632	hsa-miR-526a	CLIP-seq
MIRT1263633	hsa-miR-548o	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT1263639	hsa-miR-300	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT1263641	hsa-miR-381	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2077586	hsa-miR-1	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT2077587	hsa-miR-206	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2077589	hsa-miR-490-5p	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT2077590	hsa-miR-613	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT2304120	hsa-miR-455-5p	CLIP-seq
MIRT2304121	hsa-miR-944	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601083	hsa-miR-145	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT2601089	hsa-miR-3674	CLIP-seq
MIRT2601090	hsa-miR-3682-5p	CLIP-seq
MIRT2601091	hsa-miR-371-5p	CLIP-seq
MIRT2601092	hsa-miR-371b-5p	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT2601095	hsa-miR-3935	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT2601097	hsa-miR-4698	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT2601100	hsa-miR-513c	CLIP-seq
MIRT2601101	hsa-miR-514b-5p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000460	Process	Maturation of 5.8S rRNA	IDA	32103174
GO:0000723	Process	Telomere maintenance	IBA	21873635
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0001756	Process	Somitogenesis	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0002218	Process	Activation of innate immune response	IDA	28712728
GO:0002326	Process	B cell lineage commitment	IEA
GO:0002328	Process	Pro-B cell differentiation	IEA
GO:0002360	Process	T cell lineage commitment	IEA
GO:0002638	Process	Negative regulation of immunoglobulin production	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	22504299
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004672	Function	Protein kinase activity	IDA	7671312
GO:0004672	Function	Protein kinase activity	IMP	22504299
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	19303849, 24485452, 26237645, 32103174
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004677	Function	DNA-dependent protein kinase activity	IDA	15194694
GO:0005515	Function	Protein binding	IPI	9442054, 17308091, 18026119, 19303849, 19833092, 20023628, 20085707, 20711232, 21575865, 22504299, 22529269, 22977523, 23178489, 24365180, 25303530, 25749521, 25852083, 25941166, 26175416, 26237645, 26496610
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	22504299, 32103174
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	19303849
GO:0005730	Component	Nucleolus	IDA	27829214, 32103174
GO:0005829	Component	Cytosol	TAS
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	15194694
GO:0006302	Process	Double-strand break repair	IBA	21873635
GO:0006302	Process	Double-strand break repair	IMP	18710952
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006464	Process	Cellular protein modification process	TAS	7671312
GO:0006468	Process	Protein phosphorylation	IDA	26237645
GO:0006468	Process	Protein phosphorylation	IMP	22504299
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	26237645
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008134	Function	Transcription factor binding	IPI	19303849
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA	21873635
GO:0010332	Process	Response to gamma radiation	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016233	Process	Telomere capping	IMP	18710952
GO:0016567	Process	Protein ubiquitination	TAS
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	15194694, 19303849, 32103174
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	32103174
GO:0019899	Function	Enzyme binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	22504299
GO:0031648	Process	Protein destabilization	IEA
GO:0032040	Component	Small-subunit processome	IDA	32103174
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0032869	Process	Cellular response to insulin stimulus	IMP	19303849
GO:0032991	Component	Protein-containing complex	IMP	22504299
GO:0032993	Component	Protein-DNA complex	IDA	22504299
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IBA	21873635
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0034462	Process	Small-subunit processome assembly	IDA	32103174
GO:0034511	Function	U3 snoRNA binding	IDA	32103174
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	24485452
GO:0045087	Process	Innate immune response	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	ISS
GO:0045648	Process	Positive regulation of erythrocyte differentiation	ISS
GO:0045727	Process	Positive regulation of translation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19303849
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048639	Process	Positive regulation of developmental growth	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IMP	25852083
GO:0050678	Process	Regulation of epithelial cell proliferation	IMP	18710952
GO:0070419	Component	Nonhomologous end joining complex	IDA	20383123, 25941166
GO:0072431	Process	Signal transduction involved in mitotic G1 DNA damage checkpoint	IMP	21731742
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	TAS	18710952
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	ISS
GO:1905221	Process	Positive regulation of platelet formation	ISS
GO:2000773	Process	Negative regulation of cellular senescence	IEA
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	26237645
GO:2001229	Process	Negative regulation of response to gamma radiation	IEA

Other IDs

• MIM: 600899
• HGNC: 9413
• e!Ensembl: ENSG00000253729

Protein

• UniProt ID: P78527
• Protein name: DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (Ser-473 kinase) (S473K) (p460)
• Protein function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234). Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair
• PDB: 5LUQ, 5W1R, 5Y3R, 6ZFP, 6ZH2, 6ZH4, 6ZH6, 6ZH8, 6ZHA, 6ZHE, 7K0Y, 7K10, 7K11, 7K19, 7K1B, 7K1J, 7K1K, 7K1N, 7LT3, 7NFC, 7NFE, 7OTM, 7OTP, 7OTV, 7OTW, 7OTY, 7SGL, 7SU3, 7SUD, 7TYR, 7Z87, 7Z88, 8BH3, 8BHV, 8BHY, 8BOT, 8EZ9, 8EZA, 8EZB, 8RD4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08163	NUC194	1816 → 2202	NUC194 domain	Domain
  PF02259	FAT	3023 → 3470	FAT domain	Family
  PF00454	PI3_PI4_kinase	3747 → 4015	Phosphatidylinositol 3- and 4-kinase	Family
  PF02260	FATC	4097 → 4128	FATC domain	Family

• Sequence:

  MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFS
  RDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRA
  AKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGL
  LGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEE
  DPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKW
  CAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELS
  IAIRGYGLFAGPCKVINAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASV
  LLYLDTVPEVYTPVLEHLVVMQIDSFPQYSPKMQLVCCRAIVKVFLALAAKGPVLRNCIS
  TVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYKDYVDLFRHLLSSDQM
  MDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGV
  WMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRL
  PLISGFYKLLSITVRNAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQ
  YKDELLASCLTFLLSLPHNIIELDVRAYVPALQMAFKLGLSYTPLAEVGLNALEEWSIYI
  DRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKGFNKVVLKHLKKTKNL
  SSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFRE
  MKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQ
  LYKRTFPVLLRLACDVDQVTRQLYEPLVMQLIHWFTNNKKFESQDTVALLEAILDGIVDP
  VDSTLRDFCGRCIREFLKWSIKQITPQQQEKSPVNTKSLFKRLYSLALHPNAFKRLGASL
  AFNNIYREFREEESLVEQFVFEALVIYMESLALAHADEKSLGTIQQCCDAIDHLCRIIEK
  KHVSLNKAKKRRLPRGFPPSASLCLLDLVKWLLAHCGRPQTECRHKSIELFYKFVPLLPG
  NRSPNLWLKDVLKEEGVSFLINTFEGGGCGQPSGILAQPTLLYLRGPFSLQATLCWLDLL
  LAALECYNTFIGERTVGALQVLGTEAQSSLLKAVAFFLESIAMHDIIAAEKCFGTGAAGN
  RTSPQEGERYNYSKCTVVVRIMEFTTTLLNTSPEGWKLLKKDLCNTHLMRVLVQTLCEPA
  SIGFNIGDVQVMAHLPDVCVNLMKALKMSPYKDILETHLREKITAQSIEELCAVNLYGPD
  AQVDRSRLAAVVSACKQLHRAGLLHNILPSQSTDLHHSVGTELLSLVYKGIAPGDERQCL
  PSLDLSCKQLASGLLELAFAFGGLCERLVSLLLNPAVLSTASLGSSQGSVIHFSHGEYFY
  SLFSETINTELLKNLDLAVLELMQSSVDNTKMVSAVLNGMLDQSFRERANQKHQGLKLAT
  TILQHWKKCDSWWAKDSPLETKMAVLALLAKILQIDSSVSFNTSHGSFPEVFTTYISLLA
  DTKLDLHLKGQAVTLLPFFTSLTGGSLEELRRVLEQLIVAHFPMQSREFPPGTPRFNNYV
  DCMKKFLDALELSQSPMLLELMTEVLCREQQHVMEELFQSSFRRIARRGSCVTQVGLLES
  VYEMFRKDDPRLSFTRQSFVDRSLLTLLWHCSLDALREFFSTIVVDAIDVLKSRFTKLNE
  STFDTQITKKMGYYKILDVMYSRLPKDDVHAKESKINQVFHGSCITEGNELTKTLIKLCY
  DAFTENMAGENQLLERRRLYHCAAYNCAISVICCVFNELKFYQGFLFSEKPEKNLLIFEN
  LIDLKRRYNFPVEVEVPMERKKKYIEIRKEAREAANGDSDGPSYMSSLSYLADSTLSEEM
  SQFDFSTGVQSYSYSSQDPRPATGRFRRREQRDPTVHDDVLELEMDELNRHECMAPLTAL
  VKHMHRSLGPPQGEEDSVPRDLPSWMKFLHGKLGNPIVPLNIRLFLAKLVINTEEVFRPY
  AKHWLSPLLQLAASENNGGEGIHYMVVEIVATILSWTGLATPTGVPKDEVLANRLLNFLM
  KHVFHPKRAVFRHNLEIIKTLVECWKDCLSIPYRLIFEKFSGKDPNSKDNSVGIQLLGIV
  MANDLPPYDPQCGIQSSEYFQALVNNMSFVRYKEVYAAAAEVLGLILRYVMERKNILEES
  LCELVAKQLKQHQNTMEDKFIVCLNKVTKSFPPLADRFMNAVFFLLPKFHGVLKTLCLEV
  VLCRVEGMTELYFQLKSKDFVQVMRHRDDERQKVCLDIIYKMMPKLKPVELRELLNPVVE
  FVSHPSTTCREQMYNILMWIHDNYRDPESETDNDSQEIFKLAKDVLIQGLIDENPGLQLI
  IRNFWSHETRLPSNTLDRLLALNSLYSPKIEVHFLSLATNFLLEMTSMSPDYPNPMFEHP
  LSECEFQEYTIDSDWRFRSTVLTPMFVETQASQGTLQTRTQEGSLSARWPVAGQIRATQQ
  QHDFTLTQTADGRSSFDWLTGSSTDPLVDHTSPSSDSLLFAHKRSERLQRAPLKSVGPDF
  GKKRLGLPGDEVDNKVKGAAGRTDLLRLRRRFMRDQEKLSLMYARKGVAEQKREKEIKSE
  LKMKQDAQVVLYRSYRHGDLPDIQIKHSSLITPLQAVAQRDPIIAKQLFSSLFSGILKEM
  DKFKTLSEKNNITQKLLQDFNRFLNTTFSFFPPFVSCIQDISCQHAALLSLDPAAVSAGC
  LASLQQPVGIRLLEEALLRLLPAELPAKRVRGKARLPPDVLRWVELAKLYRSIGEYDVLR
  GIFTSEIGTKQITQSALLAEARSDYSEAAKQYDEALNKQDWVDGEPTEAEKDFWELASLD
  CYNHLAEWKSLEYCSTASIDSENPPDLNKIWSEPFYQETYLPYMIRSKLKLLLQGEADQS
  LLTFIDKAMHGELQKAILELHYSQELSLLYLLQDDVDRAKYYIQNGIQSFMQNYSSIDVL
  LHQSRLTKLQSVQALTEIQEFISFISKQGNLSSQVPLKRLLNTWTNRYPDAKMDPMNIWD
  DIITNRCFFLSKIEEKLTPLPEDNSMNVDQDGDPSDRMEVQEQEEDISSLIRSCKFSMKM
  KMIDSARKQNNFSLAMKLLKELHKESKTRDDWLVSWVQSYCRLSHCRSRSQGCSEQVLTV
  LKTVSLLDENNVSSYLSKNILAFRDQNILLGTTYRIIANALSSEPACLAEIEEDKARRIL
  ELSGSSSEDSEKVIAGLYQRAFQHLSEAVQAAEEEAQPPSWSCGPAAGVIDAYMTLADFC
  DQQLRKEEENASVIDSAELQAYPALVVEKMLKALKLNSNEARLKFPRLLQIIERYPEETL
  SLMTKEISSVPCWQFISWISHMVALLDKDQAVAVQHSVEEITDNYPQAIVYPFIISSESY
  SFKDTSTGHKNKEFVARIKSKLDQGGVIQDFINALDQLSNPELLFKDWSNDVRAELAKTP
  VNKKNIEKMYERMYAALGDPKAPGLGAFRRKFIQTFGKEFDKHFGKGGSKLLRMKLSDFN
  DITNMLLLKMNKDSKPPGNLKECSPWMSDFKVEFLRNELEIPGQYDGRGKPLPEYHVRIA
  GFDERVTVMASLRRPKRIIIRGHDEREHPFLVKGGEDLRQDQRVEQLFQVMNGILAQDSA
  CSQRALQLRTYSVVPMTSRLGLIEWLENTVTLKDLLLNTMSQEEKAAYLSDPRAPPCEYK
  DWLTKMSGKHDVGAYMLMYKGANRTETVTSFRKRESKVPADLLKRAFVRMSTSPEAFLAL
  RSHFASSHALICISHWILGIGDRHLNNFMVAMETGGVIGIDFGHAFGSATQFLPVPELMP
  FRLTRQFINLMLPMKETGLMYSIMVHALRAFRSDPGLLTNTMDVFVKEPSFDWKNFEQKM
  LKKGGSWIQEINVAEKNWYPRQKICYAKRKLAGANPAVITCDELLLGHEKAPAFRDYVAV
  ARGSKDHNIRAQEPESGLSEETQVKCLMDQATDPNILGRTWEGWEPWM

• Sequence length: 4128

Pathways

KEGG:

Non-homologous end-joining
Cell cycle

Reactome:

Cytosolic sensors of pathogen-associated DNA
IRF3-mediated induction of type I IFN
Nonhomologous End-Joining (NHEJ)
E3 ubiquitin ligases ubiquitinate target proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	25125259
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Immunodeficiency with neurologic abnormalities	Severe combined immunodeficiency due to DNA-PKcs deficiency	rs587777685, rs587777686
Immunodeficiency	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	19823081, 19075392, 23722905
Lung carcinoma	Squamous cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382
Microcephaly	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
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17196815, 25415046
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	25842288

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Fulminant hepatic failure with cerebral edema	Fulminant Hepatic Failure with Cerebral Edema		21224054
Hepatic coma	Hepatic Coma		21224054
Hepatic encephalopathy	Hepatic Encephalopathy		21224054
Hepatic stupor	Hepatic Stupor		21224054
Lung diseases	Lung diseases		17200189
Metastatic melanoma	Metastatic melanoma
Prostatic neoplasms	Prostatic Neoplasms		25415046, 17196815
Sleep disorders	Sleep Initiation and Maintenance Disorders		29520036