CUBN (cubilin)

Gene

• Entrez ID: 8029
• Gene name: Cubilin
• Gene symbol: CUBN
• Synonyms (NCBI Gene): IFCR, IGS, IGS1, MGA1, gp280
• Disease Acronyms (UniProt): IGS1
• Chromosome: 10
• Chromosome location: 10p13
• Summary: Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11254385	C>A	Likely-pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs117620008	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121434430	G>A	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs137998687	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs140970422	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141640975	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143944436	G>A	Pathogenic	Stop gained, coding sequence variant
rs145661597	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs145818316	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs146047781	A>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic upstream transcript variant
rs148869805	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs182512508	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs201720797	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs374417889	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs374695194	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs386833766	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833767	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833768	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833769	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833770	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833771	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833772	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833773	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833774	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833775	CCTACAGGTTCTTTCTCCA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833776	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833777	CT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833778	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, stop gained
rs386833779	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, synonymous variant
rs386833780	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833781	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833782	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs386833783	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833784	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833785	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833786	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833787	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833788	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833789	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833790	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833791	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs747417629	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs754704005	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs757649673	AACCTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs764379478	C>A,T	Likely-pathogenic	Splice acceptor variant
rs765301342	GGTA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs770921101	CGAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1168074679	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1205598688	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554790861	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554816715	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1564379463	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1564435513	T>G	Likely-pathogenic	Splice acceptor variant
rs1564435943	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564443979	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564492988	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1564516701	AACA>-	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1588511533	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1588639188	C>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT916345	hsa-miR-1245	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916347	hsa-miR-125a-3p	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT916351	hsa-miR-370	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT916354	hsa-miR-3934	CLIP-seq
MIRT916355	hsa-miR-3977	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT916365	hsa-miR-764	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971761	hsa-miR-27a	CLIP-seq
MIRT1971762	hsa-miR-27b	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT1971770	hsa-miR-4505	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT1971774	hsa-miR-513a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT2207465	hsa-miR-1234	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT2207466	hsa-miR-150	CLIP-seq
MIRT2207467	hsa-miR-2681	CLIP-seq
MIRT2207468	hsa-miR-297	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT2207469	hsa-miR-4757-5p	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT2207470	hsa-miR-512-3p	CLIP-seq
MIRT2207471	hsa-miR-567	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001894	Process	Tissue homeostasis	NAS	11994745
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	14576052, 20237569, 30523278
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006898	Process	Receptor-mediated endocytosis	NAS	11994745
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0009617	Process	Response to bacterium	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0015889	Process	Cobalamin transport	TAS	10080186
GO:0016020	Component	Membrane	TAS	9478979
GO:0016324	Component	Apical plasma membrane	IDA	14576052
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030139	Component	Endocytic vesicle	IDA	14576052
GO:0031232	Component	Extrinsic component of external side of plasma membrane	NAS	11994745
GO:0031419	Function	Cobalamin binding	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031526	Component	Brush border membrane	NAS	11994745
GO:0034384	Process	High-density lipoprotein particle clearance	TAS
GO:0038023	Function	Signaling receptor activity	TAS	10080186
GO:0038024	Function	Cargo receptor activity	TAS	9478979
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	10552972
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043235	Component	Receptor complex	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674

Other IDs

• MIM: 602997
• HGNC: 2548
• e!Ensembl: ENSG00000107611

Protein

• UniProt ID: O60494
• Protein name: Cubilin (460 kDa receptor) (Intestinal intrinsic factor receptor) (Intrinsic factor-cobalamin receptor) (Intrinsic factor-vitamin B12 receptor)
• Protein function: Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:10371504, PubMed:11606717, PubMed:11717447, PubMed:14576052, PubMed:9572993). Acts together with LRP2 to mediate endocytosis o
• PDB: 3KQ4, 6GJE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	136 → 166	EGF-like domain	Domain
  PF07645	EGF_CA	170 → 217	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	263 → 303	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	305 → 347	Calcium-binding EGF domain	Domain
  PF12947	EGF_3	353 → 388	EGF domain	Domain
  PF00008	EGF	399 → 428	EGF-like domain	Domain
  PF00008	EGF	436 → 466	EGF-like domain	Domain
  PF00431	CUB	474 → 583	CUB domain	Domain
  PF00431	CUB	590 → 699	CUB domain	Domain
  PF00431	CUB	708 → 813	CUB domain	Domain
  PF00431	CUB	817 → 925	CUB domain	Domain
  PF00431	CUB	932 → 1039	CUB domain	Domain
  PF00431	CUB	1048 → 1158	CUB domain	Domain
  PF00431	CUB	1165 → 1274	CUB domain	Domain
  PF00431	CUB	1278 → 1386	CUB domain	Domain
  PF00431	CUB	1391 → 1503	CUB domain	Domain
  PF00431	CUB	1510 → 1616	CUB domain	Domain
  PF00431	CUB	1620 → 1731	CUB domain	Domain
  PF00431	CUB	1738 → 1847	CUB domain	Domain
  PF00431	CUB	1852 → 1960	CUB domain	Domain
  PF00431	CUB	1978 → 2088	CUB domain	Domain
  PF00431	CUB	2092 → 2210	CUB domain	Domain
  PF00431	CUB	2217 → 2331	CUB domain	Domain
  PF00431	CUB	2336 → 2445	CUB domain	Domain
  PF00431	CUB	2452 → 2562	CUB domain	Domain
  PF00431	CUB	2570 → 2684	CUB domain	Domain
  PF00431	CUB	2689 → 2798	CUB domain	Domain
  PF00431	CUB	2805 → 2916	CUB domain	Domain
  PF00431	CUB	2920 → 3032	CUB domain	Domain
  PF00431	CUB	3037 → 3147	CUB domain	Domain
  PF00431	CUB	3157 → 3271	CUB domain	Domain
  PF00431	CUB	3278 → 3390	CUB domain	Domain
  PF00431	CUB	3395 → 3504	CUB domain	Domain
  PF00431	CUB	3511 → 3621	CUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney. {ECO:0
• Sequence:

  MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQN
  IEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDL
  ERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGT
  PLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGE
  PKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNG
  YICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGC
  HPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC
  DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSG
  INGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSS
  SAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGS
  IKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPL
  LGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELF
  LPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCG
  NGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGER
  TCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFIT
  SVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTW
  HILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSL
  MLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITV
  RTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLW
  LKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHG
  SAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLR
  TDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNY
  TFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREK
  GFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEY
  HSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFN
  ASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQ
  DSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQAC
  GGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFV
  EILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGG
  TFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIRE
  GNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTH
  GKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHA
  RLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGG
  FLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIR
  DGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR
  GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPD
  ICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGN
  VYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYL
  ELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRV
  PGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDN
  HTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSI
  GTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNS
  PQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEG
  NFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDA
  DGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVI
  TSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPII
  GQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPH
  WPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLA
  TGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQY
  DNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCG
  DEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPN
  DMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPN
  VKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYD
  KNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGST
  VPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPD
  VPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASA
  VPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKD
  CTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFS
  QNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWV
  LVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSN
  QVFIKFHADYARRPSAFRLTWDS

• Sequence length: 3623

Pathways

KEGG:

Vitamin digestion and absorption

Reactome:

Cobalamin (Cbl, vitamin B12) transport and metabolism
Vitamin D (calciferol) metabolism
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1
HDL clearance

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Megaloblastic, Megaloblastic anemia due to inborn errors of metabolism, Megaloblastic Anemia 1	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	22574174, 15024727, 10080186, 25349199, 22929189, 21208123, 10887099, 27604308
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Colonic neoplasms	Malignant tumor of colon	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	25990418
Colorectal cancer	Colorectal Carcinoma, Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, 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, 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	25990418
Colorectal neoplasms	Colorectal Neoplasms, Malignant neoplasm of large intestine	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	25990418
Diabetes	Diabetes	rs80356611	31511532
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	31511532, 23945395
Esophagus neoplasm	Esophageal Neoplasms	rs28934578, rs121918714, rs1567556006, rs1575166666	22960999
Imerslund-grasbeck syndrome	Imerslund-Gräsbeck syndrome	rs119478058, rs121434430, rs1205598688, rs386833766, rs386833767, rs386833768, rs386833769, rs386833770, rs386833771, rs182512508, rs386833772, rs386833773, rs386833774, rs386833775, rs386833776, rs386833777, rs386833778, rs386833779, rs386833780, rs386833781, rs386833783, rs386833784, rs386833785, rs386833786, rs386833787, rs386833788, rs386833789, rs386833790, rs386833791, rs386834160, rs386834161, rs386834162, rs386834163, rs386834165, rs386834167, rs386834168, rs386834169, rs386834170, rs386834171, rs386834172, rs386834173, rs144077391, rs386834174, rs386834175, rs386834176, rs386834177, rs386834178, rs386834179, rs386833782, rs757649673, rs566060177, rs374695194, rs1168074679, rs1554790861, rs1555381485, rs143944436, rs146047781, rs1564435943, rs145661597, rs969552874, rs137998687, rs754704005, rs1564379463, rs752843169, rs368697251, rs747417629, rs1564435513, rs1564443979, rs765301342, rs769881615, rs770921101, rs1588639188, rs374417889, rs1588511533, rs147730705, rs557208468, rs2131458620, rs202153130, rs2131820786, rs2139312594, rs1566829097, rs769770182, rs375774640
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, 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	22535842

Unknown
Disease term	Disease name	Evidence	References	Source
Imerslund-Grasbeck Syndrome	Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome			GenCC
Proteinuria	proteinuria, chronic benign			GenCC
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Gout	Gout			GWAS
Gastroesophageal Reflux Disease	Gastroesophageal Reflux Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	24533076
Acute Kidney Injury	Associate	22574174, 37789254
Albuminuria	Associate	19366958, 22574174, 23114252, 24052458, 25644490, 30547231, 31613795, 36926036, 37872228
Anemia	Associate	10887099
Anemia Megaloblastic	Associate	31438875
Bicuspid Aortic Valve Disease	Associate	36071494
Breast Neoplasms	Associate	18567755
Carcinogenesis	Associate	26959381
Carcinoma Renal Cell	Associate	28052770, 28260162, 35373928
Cardiovascular Diseases	Associate	24052458
Colorectal Neoplasms	Associate	31434255
Colorectal Neoplasms	Stimulate	33235183
Coronary Artery Disease	Associate	33004870
Coronary Disease	Associate	20855565
COVID 19	Associate	37789254
Death	Associate	31541730
Dent Disease	Associate	23572577
Diabetes Mellitus	Associate	19366958, 23114252, 30547231, 31630189, 36926036, 37446387
Diabetes Mellitus Type 1	Associate	19366958, 36926036
Diabetes Mellitus Type 2	Associate	30547231, 31630189, 36926036
Donnai Barrow syndrome	Associate	25822460
Drug Related Side Effects and Adverse Reactions	Associate	18448595
Fanconi Syndrome	Associate	28577559
Genetic Diseases Inborn	Associate	31613795
Glomerulosclerosis Focal Segmental	Associate	34979989
Heart Defects Congenital	Associate	24533076
Hypertension	Associate	31630189
Hyperuricemia	Associate	36583005
Imerslund Grasbeck syndrome	Associate	10887099, 15738392, 21750092, 22078000, 22929189, 26040326, 29402915, 30691194, 31613795, 34979989
Kidney Cortex Necrosis	Associate	25822460
Kidney Diseases	Associate	21903995, 30547231, 31438875
Kidney Failure Chronic	Associate	22574174
Kidney Neoplasms	Associate	28260162
Leukopenia	Associate	36275653
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	15738392
Multiple Myeloma	Associate	18448595
Neoplasms	Associate	22006429, 28052770, 28260162
Osteosarcoma	Associate	22006429
Pancreatic Neoplasms	Associate	23334854, 25799011
Proteinuria	Associate	21903995, 22574174, 30476138, 31438875, 31613795, 31793908, 34979989
Renal Insufficiency	Associate	22574174
Renal Insufficiency Chronic	Associate	22574174, 36926036
SeSAME syndrome	Associate	14990980
Sjogren's Syndrome	Inhibit	28577559
Sleep Apnea Obstructive	Associate	38008818
Stomach Neoplasms	Associate	26959381
Stroke	Associate	31630189
Tuberculosis Pulmonary	Associate	36275653
Vascular Diseases	Associate	31630189
Vitamin B 12 Deficiency	Associate	21903995, 25644490, 31613795