POT1 (protection of telomeres 1)

Gene

• Entrez ID: 25913
• Gene name: Protection of telomeres 1
• Gene symbol: POT1
• Synonyms: CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3
• Chromosome: 7
• Chromosome location: 7q31.33
• Summary: This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere len

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777473	C>T	Risk-factor	Splice acceptor variant
rs587777474	G>C	Risk-factor	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs587777476	C>A,T	Risk-factor, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587777477	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs587777478	C>G	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs750470470	->A	Likely-pathogenic, uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758673417	AT>-	Likely-pathogenic, uncertain-significance, risk-factor	Non coding transcript variant, coding sequence variant, frameshift variant
rs762679439	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs797045168	C>A	Uncertain-significance, risk-factor	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs797045169	C>A	Risk-factor	Coding sequence variant, non coding transcript variant, stop gained
rs866612394	C>T	Uncertain-significance, pathogenic	Splice acceptor variant
rs1064794328	A>-	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1202302799	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1397398300	CT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1562997292	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1584757180	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584777802	AG>TTTAAACTAAAGAAACTTCATAGTTTC	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, inframe indel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT516763	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550961	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550960	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550966	hsa-miR-8485	PAR-CLIP	21572407
MIRT550965	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT550964	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT550963	hsa-miR-603	PAR-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550961	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550960	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550958	hsa-miR-3941	PAR-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516762	hsa-miR-33a-3p	PAR-CLIP	23446348
MIRT516761	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT516760	hsa-miR-4762-5p	PAR-CLIP	23446348
MIRT516759	hsa-miR-8068	PAR-CLIP	23446348
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516757	hsa-miR-3149	PAR-CLIP	23446348
MIRT735149	hsa-miR-185-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, In situ hybridization	32687062
MIRT516763	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT550961	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT550960	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT626029	hsa-miR-4501	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT626028	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626027	hsa-miR-3118	HITS-CLIP	23824327
MIRT626026	hsa-miR-3164	HITS-CLIP	23824327
MIRT626025	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT610817	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT610816	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT610815	hsa-miR-8066	HITS-CLIP	23824327
MIRT550966	hsa-miR-8485	HITS-CLIP	23824327
MIRT550963	hsa-miR-603	HITS-CLIP	23824327
MIRT610814	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550966	hsa-miR-8485	PAR-CLIP	21572407
MIRT550965	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT550964	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT550963	hsa-miR-603	PAR-CLIP	21572407
MIRT550962	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550961	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550960	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT550959	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550958	hsa-miR-3941	PAR-CLIP	21572407
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516763	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT516762	hsa-miR-33a-3p	PAR-CLIP	23446348
MIRT516761	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT516760	hsa-miR-4762-5p	PAR-CLIP	23446348
MIRT516759	hsa-miR-8068	PAR-CLIP	23446348
MIRT516758	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516757	hsa-miR-3149	PAR-CLIP	23446348
MIRT1250276	hsa-miR-3942-3p	CLIP-seq
MIRT1250277	hsa-miR-412	CLIP-seq
MIRT1250278	hsa-miR-203	CLIP-seq
MIRT1250279	hsa-miR-4325	CLIP-seq
MIRT1552447	hsa-miR-224	CLIP-seq
MIRT1552448	hsa-miR-3143	CLIP-seq
MIRT1552449	hsa-miR-340	CLIP-seq
MIRT1552450	hsa-miR-382	CLIP-seq
MIRT1552451	hsa-miR-4275	CLIP-seq
MIRT1552452	hsa-miR-4477a	CLIP-seq
MIRT1552453	hsa-miR-4528	CLIP-seq
MIRT1552454	hsa-miR-543	CLIP-seq
MIRT2300760	hsa-miR-103b	CLIP-seq
MIRT2300761	hsa-miR-1271	CLIP-seq
MIRT2300762	hsa-miR-1324	CLIP-seq
MIRT2300763	hsa-miR-182	CLIP-seq
MIRT2300764	hsa-miR-21	CLIP-seq
MIRT2300765	hsa-miR-214	CLIP-seq
MIRT2300766	hsa-miR-3120-5p	CLIP-seq
MIRT2300767	hsa-miR-3619-5p	CLIP-seq
MIRT2300768	hsa-miR-383	CLIP-seq
MIRT2300769	hsa-miR-4291	CLIP-seq
MIRT2300770	hsa-miR-4470	CLIP-seq
MIRT2300771	hsa-miR-4503	CLIP-seq
MIRT2300772	hsa-miR-4668-3p	CLIP-seq
MIRT2300773	hsa-miR-4699-3p	CLIP-seq
MIRT2300774	hsa-miR-4753-3p	CLIP-seq
MIRT2300775	hsa-miR-4772-5p	CLIP-seq
MIRT2300776	hsa-miR-4803	CLIP-seq
MIRT2300777	hsa-miR-511	CLIP-seq
MIRT2300778	hsa-miR-548p	CLIP-seq
MIRT2300779	hsa-miR-590-5p	CLIP-seq
MIRT2300780	hsa-miR-761	CLIP-seq
MIRT2300781	hsa-miR-9	CLIP-seq
MIRT2300782	hsa-miR-922	CLIP-seq
MIRT2300783	hsa-miR-96	CLIP-seq
MIRT2597631	hsa-miR-1323	CLIP-seq
MIRT2597632	hsa-miR-371-5p	CLIP-seq
MIRT2597633	hsa-miR-510	CLIP-seq
MIRT2597634	hsa-miR-548o	CLIP-seq
MIRT2597635	hsa-miR-873	CLIP-seq
MIRT2597631	hsa-miR-1323	CLIP-seq
MIRT2597633	hsa-miR-510	CLIP-seq
MIRT2597634	hsa-miR-548o	CLIP-seq
MIRT2597635	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	12768206, 23685356, 24270157
GO:0000783	Component	Nuclear telomere cap complex	IBA	21873635
GO:0000783	Component	Nuclear telomere cap complex	IDA	16880378
GO:0005515	Function	Protein binding	IPI	12768206, 15181449, 15383534, 15657433, 16189514, 17237768, 19287395, 19651898, 21044950, 22763445, 25172512, 25416956, 25620558, 26496610, 28514442, 31515488, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0007004	Process	Telomere maintenance via telomerase	IDA	12768206
GO:0010521	Function	Telomerase inhibitor activity	IBA	21873635
GO:0010521	Function	Telomerase inhibitor activity	IDA	15632080
GO:0016233	Process	Telomere capping	IBA	21873635
GO:0016233	Process	Telomere capping	IGI	17632522
GO:0016233	Process	Telomere capping	IMP	15657433
GO:0016233	Process	Telomere capping	TAS	17237768
GO:0017151	Function	DEAD/H-box RNA helicase binding	IPI	16030011
GO:0032202	Process	Telomere assembly	IDA	16043710
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IBA	21873635
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IGI	26586433
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IGI	15181449
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	TAS	17237768
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IDA	17237768
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	12768206, 12781132
GO:0032508	Process	DNA duplex unwinding	IDA	16030011
GO:0042162	Function	Telomeric DNA binding	IDA	23685356
GO:0043047	Function	Single-stranded telomeric DNA binding	IDA	15632080, 17237767
GO:0043047	Function	Single-stranded telomeric DNA binding	IMP	12768206
GO:0051096	Process	Positive regulation of helicase activity	IDA	16030011
GO:0051973	Process	Positive regulation of telomerase activity	IDA	16043710, 17237768
GO:0051973	Process	Positive regulation of telomerase activity	IMP	15181449
GO:0051974	Process	Negative regulation of telomerase activity	IBA	21873635
GO:0051974	Process	Negative regulation of telomerase activity	IDA	15632080
GO:0060383	Process	Positive regulation of DNA strand elongation	IDA	16043710
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	19734539
GO:0061849	Function	Telomeric G-quadruplex DNA binding	IDA	19734539
GO:0070187	Component	Shelterin complex	IDA	15383534, 23685356
GO:0070187	Component	Shelterin complex	IMP	21852327
GO:0070187	Component	Shelterin complex	TAS	17237768
GO:0070200	Process	Establishment of protein localization to telomere	IMP	25589350
GO:0098505	Function	G-rich strand telomeric DNA binding	IBA	21873635
GO:0098505	Function	G-rich strand telomeric DNA binding	IDA	17237768, 21852327, 22763445
GO:1905773	Function	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	19734539
GO:1905774	Process	Regulation of DNA helicase activity	IDA	19734539
GO:1905776	Process	Positive regulation of DNA helicase activity	IDA	19734539
GO:1990955	Function	G-rich single-stranded DNA binding	IDA	19734539
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IDA	29227966

Other IDs

• MIM: 606478
• HGNC: 17284
• e!Ensembl: ENSG00000128513

Protein

• UniProt ID: Q9NUX5
• Protein name: Protection of telomeres protein 1 (hPot1) (POT1-like telomere end-binding protein)
• Protein function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere len
• PDB: 1XJV, 3KJO, 3KJP, 5H65, 5UN7, 7QXB, 7QXS, 7S1O, 7S1T, 7S1U, 8SH0, 8SH1, 8SOJ, 8SOK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02765	POT1	11 → 141	Telomeric single stranded DNA binding POT1/CDC13	Domain
  PF16686	POT1PC	152 → 298	ssDNA-binding domain of telomere protection protein	Domain

• Sequence:

  MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCL
  LFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSS
  KYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFL
  LKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
  IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTAN
  QHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQY
  RIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYD
  SKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
  EDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQY
  VFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAY
  PWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI

• Sequence length: 634

Pathways

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	rs1568504941	25482530
Astrocytoma	Astrocytoma	rs555607708
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Melanoma	melanoma, Familial 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	24686849
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724	28598434

Unknown
Disease name	Disease term	dbSNP ID	References
Atypical mole melanoma syndrome	Familial Atypical Mole Melanoma Syndrome		24686846, 24686849
Autosomal chromosome disorders	Autosomal Chromosome Disorders		23502782
Lymphocytic leukemia	B-CELL MALIGNANCY, LOW-GRADE, B-cell chronic lymphocytic leukemia, Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma		23502782, 24292274, 23502782
Mammary neoplasms	Mammary Neoplasms
Congenital chromosomal disease	Congenital chromosomal disease		23502782
Lymphoid leukemia	Lymphoid leukemia		23502782, 24292274
Nevus	Nevus
Oligodendroglioma	oligodendroglioma	rs1568503055, rs1569535987	25482530
Pancreatic neoplasm	Pancreatic Neoplasm
Retinal diseases	Retinal Diseases
Skin cancer	Malignant neoplasm of skin		24686849
Skin neoplasms	Skin Neoplasms		24686849
Stomach neoplasms	Stomach Neoplasms