FAT1 (FAT atypical cadherin 1)

Gene

• Entrez ID: 2195
• Gene name: FAT atypical cadherin 1
• Gene symbol: FAT1
• Synonyms: CDHF7, CDHR8, FAT, ME5, hFat1
• Chromosome: 4
• Chromosome location: 4q35.2
• Summary: This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs180820128	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185078412	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs201488687	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs369363545	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs375998390	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579327590	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579484570	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579484850	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579491104	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047315	hsa-miR-181a-5p	CLASH	23622248
MIRT046601	hsa-miR-222-3p	CLASH	23622248
MIRT046026	hsa-miR-125b-5p	CLASH	23622248
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989795	hsa-miR-223	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989806	hsa-miR-4463	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT989810	hsa-miR-4697-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989812	hsa-miR-4711-5p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT989814	hsa-miR-4719	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT989816	hsa-miR-4794	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989820	hsa-miR-548u	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT989826	hsa-miR-892b	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT1993338	hsa-miR-203	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT1993340	hsa-miR-3646	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT2227177	hsa-miR-3148	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT2227181	hsa-miR-4276	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT2227185	hsa-miR-4698	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT2680788	hsa-miR-3120-3p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2680789	hsa-miR-3617	CLIP-seq
MIRT2680790	hsa-miR-3647-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2680791	hsa-miR-4282	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT2680792	hsa-miR-4311	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2680793	hsa-miR-520d-5p	CLIP-seq
MIRT2680794	hsa-miR-524-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT2680795	hsa-miR-641	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ING1	Unknown	15743678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16979624, 19131340
GO:0005634	Component	Nucleus	IDA	15922730
GO:0005886	Component	Plasma membrane	IDA	15922730
GO:0005887	Component	Integral component of plasma membrane	TAS	8586420
GO:0005911	Component	Cell-cell junction	IDA	15148305
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	ISS
GO:0007155	Process	Cell adhesion	TAS	8586420
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	ISS
GO:0007267	Process	Cell-cell signaling	TAS	8586420
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8586420
GO:0016477	Process	Cell migration	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15922730
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	ISS

Other IDs

• MIM: 600976
• HGNC: 3595
• e!Ensembl: ENSG00000083857

Protein

• UniProt ID: Q14517
• Protein name: Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form]
• Protein function: [Protocadherin Fat 1]: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	154 → 248	Cadherin domain	Domain
  PF00028	Cadherin	468 → 560	Cadherin domain	Domain
  PF00028	Cadherin	722 → 813	Cadherin domain	Domain
  PF00028	Cadherin	827 → 918	Cadherin domain	Domain
  PF00028	Cadherin	932 → 1023	Cadherin domain	Domain
  PF00028	Cadherin	1039 → 1130	Cadherin domain	Domain
  PF00028	Cadherin	1144 → 1236	Cadherin domain	Domain
  PF00028	Cadherin	1261 → 1344	Cadherin domain	Domain
  PF00028	Cadherin	1363 → 1447	Cadherin domain	Domain
  PF00028	Cadherin	1461 → 1553	Cadherin domain	Domain
  PF00028	Cadherin	1567 → 1658	Cadherin domain	Domain
  PF00028	Cadherin	1672 → 1756	Cadherin domain	Domain
  PF00028	Cadherin	1774 → 1868	Cadherin domain	Domain
  PF00028	Cadherin	1891 → 1970	Cadherin domain	Domain
  PF00028	Cadherin	1984 → 2072	Cadherin domain	Domain
  PF00028	Cadherin	2086 → 2175	Cadherin domain	Domain
  PF00028	Cadherin	2187 → 2274	Cadherin domain	Domain
  PF00028	Cadherin	2288 → 2381	Cadherin domain	Domain
  PF00028	Cadherin	2395 → 2483	Cadherin domain	Domain
  PF00028	Cadherin	2497 → 2587	Cadherin domain	Domain
  PF00028	Cadherin	2601 → 2694	Cadherin domain	Domain
  PF00028	Cadherin	2708 → 2800	Cadherin domain	Domain
  PF00028	Cadherin	2814 → 2909	Cadherin domain	Domain
  PF00028	Cadherin	2923 → 3014	Cadherin domain	Domain
  PF00028	Cadherin	3028 → 3116	Cadherin domain	Domain
  PF00028	Cadherin	3130 → 3221	Cadherin domain	Domain
  PF00028	Cadherin	3235 → 3326	Cadherin domain	Domain
  PF00028	Cadherin	3340 → 3431	Cadherin domain	Domain
  PF00028	Cadherin	3445 → 3536	Cadherin domain	Domain
  PF02210	Laminin_G_2	3859 → 3985	Laminin G domain	Domain
  PF00008	EGF	4017 → 4048	EGF-like domain	Domain
  PF00008	EGF	4093 → 4123	EGF-like domain	Domain

• Sequence:

  MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMG
  VYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIV
  KALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGT
  NGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSM
  AKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
  QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQF
  KAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLI
  SILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGT
  TVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRA
  SDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
  LVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYIN
  ITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTL
  PTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPL
  DRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSE
  IIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
  AREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSG
  QVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEV
  EVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVG
  VFKIGEETGVIETSDRLDRESTSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTS
  EPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
  RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKILDENDNKPQFLQKFYKIRLPEREKP
  DRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKFFIEPKTGVVSSKRFSAAGEY
  DILSIKAVDNGRPQKSSTTRLHIEWISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVI
  SVEPPGIPLWFDITGGNYDSHFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILT
  QVFIKVIDTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
  SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVSDTNDHAP
  WFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYSIESGNIGNSFMIDPVLGSIK
  TAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETV
  SIGSFVGMVTAHSQSSVVYEIKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGT
  NMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADAD
  KDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAE
  YAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVKVITVNATDADSSAFSQLIYSITE
  GNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFT
  QDVYSAVVKENSTEAETLAVITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFD
  REQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVGHVI
  RYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGG
  NPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQVHSPVVHVQANSPEGLKVFYSITD
  GDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNP
  PVFAQQSYAVTLSEASVIGTSVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTG
  LISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEARIS
  EHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPF
  YSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEYEVELAENAPLHTLVMEVKTTDGD
  SGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFC
  TVNVILTDDNDNAPQFRATKYEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSE
  SVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPEMQL
  PKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRL
  KLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVKDANDNSPVFESSPYEAFIVE
  NLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKR
  DNYQIKVVASDHGEKIQLSSTAIVDVTVTDVNDSPPRFTAEIYKGTVSEDDPQGGVIAIL
  STTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATD
  GTFSSKAIVEVKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITY
  TLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRATDGGGRFCQASIVLTLEDVND
  NAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGI
  IQLEKPLDRELQAVYTLSLKAVDQGLPRRLTATGTVIVSVLDINDNPPVFEYREYGATVS
  EDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHE
  YYLTVEATDGGTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVMAD
  DADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKLLDRETISGYTLTVQASDNGSPPR
  VNTTTVNIDVSDVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTI
  VTGNDEKAFEVNPQGVLLTSSAIKRKEKDHYLLQVKVADNGKPQLSSLTYIDIRVIEESI
  YPPAILPLEIFITSSGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGGKLI
  AHKKLDIGQYLLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYW
  RNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLFVEKPGSAQISTKQLLHKINSSVT
  DIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVC
  LCKEGRCPPVHHGCEDDPCPEGSECVSDPWEEKHTCVCPSGRFGQCPGSSSMTLTGNSYV
  KYRLTENENKLEMKLTMRLRTYSTHAVVMYARGTDYSILEIHHGRLQYKFDCGSGPGIVS
  VQSIQVNDGQWHAVALEVNGNYARLVLDQVHTASGTAPGTLKTLNLDNYVFFGGHIRQQG
  TRHGRSPQVGNGFRGCMDSIYLNGQELPLNSKPRSYAHIEESVDVSPGCFLTATEDCASN
  PCQNGGVCNPSPAGGYYCKCSALYIGTHCEISVNPCSSKPCLYGGTCVVDNGGFVCQCRG
  LYTGQRCQLSPYCKDEPCKNGGTCFDSLDGAVCQCDSGFRGERCQSDIDECSGNPCLHGA
  LCENTHGSYHCNCSHEYRGRHCEDAAPNQYVSTPWNIGLAEGIGIVVFVAGIFLLVVVFV
  LCRKMISRKKKHQAEPKDKHLGPATAFLQRPYFDSKLNKNIYSDIPPQVPVRPISYTPSI
  PSDSRNNLDRNSFEGSAIPEHPEFSTFNPESVHGHRKAVAVCSVAPNLPPPPPSNSPSDS
  DSIQKPSWDFDYDTKVVDLDPCLSKKPLEEKPSQPYSARESLSEVQSLSSFQSESCDDNG
  YHWDTSDWMPSVPLPDIQEFPNYEVIDEQTPLYSADPNAIDTDYYPGGYDIESDFPPPPE
  DFPAADELPPLPPEFSNQFESIHPPRDMPAAGSLGSSSRNRQRFNLNQYLPNFYPLDMSE
  PQTKGTGENSTCREPHAPYPPGYQRHFEAPAVESMPMSVYASTASCSDVSACCEVESEVM
  MSDYESGDDGHFEEVTIPPLDSQQHTEV

• Sequence length: 4588

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Colorectal cancer	Colorectal Carcinoma	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	23354438
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	23354438
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25151357
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	23354438
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900	22197933

Unknown
Disease name	Disease term	dbSNP ID	References
Giant cell glioblastoma	Giant Cell Glioblastoma		23354438
Head and neck neoplasms	Head and Neck Neoplasms		23354438
Head neoplasms	Head Neoplasms		23354438
Neck cancer	Cancer of Neck		23354438
Neoplasm of head	Cancer of Head		23354438
Head and neck cancer	Malignant Head and Neck Neoplasm	rs762384959, rs16879870, rs2761591, rs2641256, rs854936	23354438
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29317602
Neck neoplasms	Neck Neoplasms		23354438
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588
Upper aerodigestive tract neoplasms	Upper Aerodigestive Tract Neoplasms		23354438