LRP1 (LDL receptor related protein 1)

Gene

• Entrez ID: 4035
• Gene name: LDL receptor related protein 1
• Gene symbol: LRP1
• Synonyms: A2MR, APOER, APR, CD91, IGFBP-3R, IGFBP3R, IGFBP3R1, KPA, LRP, LRP1A, TGFBR5
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer`s disease patients. [provided by RefSeq, Oct 2015]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs483353013	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001161	hsa-miR-338-5p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001162	hsa-miR-545-3p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001163	hsa-miR-205-5p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001359	hsa-miR-1-3p	pSILAC, Proteomics;Other	18668040
MIRT017720	hsa-miR-335-5p	Microarray	18185580
MIRT021326	hsa-miR-9-5p	Microarray	17612493

Transcription factors

Transcription factor	Regulation	Reference
SREBF1	Repression	20980003
SREBF2	Repression	16697011;20980003

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001540	Function	Amyloid-beta binding	IC
GO:0002020	Function	Protease binding	IEA
GO:0002265	Process	Astrocyte activation involved in immune response	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS	20005821
GO:0005044	Function	Scavenger receptor activity	TAS	11240025
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	8626514, 10772929, 15182176, 17326667, 17360663, 20030366, 20472562, 21054788, 21968187, 24284412, 26005850, 28514442, 29547901
GO:0005634	Component	Nucleus	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005769	Component	Early endosome	IDA	26005850
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS	14645246
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	TAS	21289173
GO:0006898	Process	Receptor-mediated endocytosis	IMP	23152628, 24305823, 26005850, 26781079
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006898	Process	Receptor-mediated endocytosis	TAS
GO:0006909	Process	Phagocytosis	IMP	23152628
GO:0006909	Process	Phagocytosis	NAS	20199584
GO:0007041	Process	Lysosomal transport	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007205	Process	Protein kinase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007568	Process	Aging	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010715	Process	Regulation of extracellular matrix disassembly	TAS	14645246
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0010942	Process	Positive regulation of cell death	IGI	23386614
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0014912	Process	Negative regulation of smooth muscle cell migration	ISS
GO:0015026	Function	Coreceptor activity	IEA
GO:0016020	Component	Membrane	NAS	23386614
GO:0016323	Component	Basolateral plasma membrane	IDA	26005850
GO:0016964	Function	Alpha-2 macroglobulin receptor activity	IMP	26142438
GO:0016964	Function	Alpha-2 macroglobulin receptor activity	TAS	21289173
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030226	Function	Apolipoprotein receptor activity	TAS	21289173
GO:0030425	Component	Dendrite	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031623	Process	Receptor internalization	TAS	22293988
GO:0032050	Function	Clathrin heavy chain binding	IPI	26005850
GO:0032092	Process	Positive regulation of protein binding	IGI	23386614
GO:0032370	Process	Positive regulation of lipid transport	ISS
GO:0032374	Process	Regulation of cholesterol transport	ISS
GO:0032429	Process	Regulation of phospholipase A2 activity	ISS
GO:0032593	Component	Insulin-responsive compartment	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0034185	Function	Apolipoprotein binding	IDA	2779654
GO:0034185	Function	Apolipoprotein binding	IPI	18635818
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0038023	Function	Signaling receptor activity	TAS	10880251
GO:0038024	Function	Cargo receptor activity	IMP	23152628, 24305823
GO:0038024	Function	Cargo receptor activity	ISS
GO:0038024	Function	Cargo receptor activity	NAS	3266596
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042953	Process	Lipoprotein transport	NAS	3266596
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043277	Process	Apoptotic cell clearance	ISS
GO:0043395	Function	Heparan sulfate proteoglycan binding	TAS	21289173
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0044242	Process	Cellular lipid catabolic process	IEA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	8626514
GO:0045056	Process	Transcytosis	TAS	22293988
GO:0045177	Component	Apical part of cell	IEA
GO:0045807	Process	Positive regulation of endocytosis	IGI	23386614
GO:0048691	Process	Positive regulation of axon extension involved in regeneration	IEA
GO:0048694	Process	Positive regulation of collateral sprouting of injured axon	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0051895	Process	Negative regulation of focal adhesion assembly	IEA
GO:0061642	Process	Chemoattraction of axon	IEA
GO:0070325	Function	Lipoprotein particle receptor binding	IC	18635818
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0097242	Process	Amyloid-beta clearance	NAS	20199584
GO:0097242	Process	Amyloid-beta clearance	TAS	19098903
GO:0098797	Component	Plasma membrane protein complex	TAS	21289173
GO:0150051	Component	Postsynaptic Golgi apparatus	IEA
GO:0150093	Process	Amyloid-beta clearance by transcytosis	IGI	26005850
GO:0150093	Process	Amyloid-beta clearance by transcytosis	ISS
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IMP	23152628, 24305823
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1900149	Process	Positive regulation of Schwann cell migration	IEA
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	TAS	22383525
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IGI	23386614
GO:1904109	Process	Positive regulation of cholesterol import	IEA
GO:1904300	Process	Positive regulation of transcytosis	ISS
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA
GO:1905049	Process	Negative regulation of metallopeptidase activity	IC	26781079
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	IMP	23152628
GO:2000343	Process	Positive regulation of chemokine (C-X-C motif) ligand 2 production	IEA
GO:2000587	Process	Negative regulation of platelet-derived growth factor receptor-beta signaling pathway	ISS

Other IDs

• MIM: 107770
• HGNC: 6692
• e!Ensembl: ENSG00000123384

Protein

• UniProt ID: Q07954
• Protein name: Prolow-density lipoprotein receptor-related protein 1 (LRP-1) (Alpha-2-macroglobulin receptor) (A2MR) (Apolipoprotein E receptor) (APOER) (CD antigen CD91) [Cleaved into: Low-density lipoprotein receptor-related protein 1 85 kDa subunit (LRP-85); Low-density lipoprotein receptor-related protein 1 515 kDa subunit (LRP-515); Low-density lipoprotein receptor-related protein 1 intracellular domain (LRPICD)]
• Protein function: Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. Acts as an LRPAP1 alpha-2-macroglobulin receptor (PubMed:26142438, PubMed:1702392). Acts as TAU/MAPT receptor and controls the endocytosis of TAU/MAPT as well as its subsequent spread (PubMed:32296178). May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:12888553). ; (Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.
• PDB: 1CR8, 1D2L, 1J8E, 2FYJ, 2FYL, 2KNX, 2KNY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	25 → 64	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	70 → 108	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	150 → 188	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	614 → 657	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	660 → 708	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	807 → 842		Domain
  PF00057	Ldl_recept_a	852 → 890	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	893 → 931	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	934 → 971	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	974 → 1011	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1013 → 1051	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1060 → 1097	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1102 → 1140	Low-density lipoprotein receptor domain class A	Repeat
  PF14670	FXa_inhibition	1185 → 1221		Domain
  PF00058	Ldl_recept_b	1356 → 1396	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1399 → 1443	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1627 → 1667	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1977 → 2017	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2020 → 2061	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2344 → 2386	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2389 → 2428	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	2522 → 2561	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2564 → 2600	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2603 → 2639	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2657 → 2688	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2694 → 2730	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2732 → 2769	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2772 → 2812	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2816 → 2853	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2856 → 2897	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2902 → 2939	Low-density lipoprotein receptor domain class A	Repeat
  PF12662	cEGF	2962 → 2985	Complement Clr-like EGF-like	Domain
  PF16472	DUF5050	3022 → 3258	Domain of unknown function (DUF5050)	Domain
  PF14670	FXa_inhibition	3294 → 3330		Domain
  PF00057	Ldl_recept_a	3332 → 3369	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3372 → 3408	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3411 → 3448	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3451 → 3489	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3492 → 3531	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3534 → 3570	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3573 → 3609	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3611 → 3647	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3652 → 3690	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3739 → 3776	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	3824 → 3861	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	3970 → 4010	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	4013 → 4054	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	4057 → 4099	Low-density lipoprotein receptor repeat class B	Repeat

• Sequence:

  MLTPPLLLLLPLLSALVAAAIDAPKTCSPKQFACRDQITCISKGWRCDGERDCPDGSDEA
  PEICPQSKAQRCQPNEHNCLGTELCVPMSRLCNGVQDCMDGSDEGPHCRELQGNCSRLGC
  QHHCVPTLDGPTCYCNSSFQLQADGKTCKDFDECSVYGTCSQLCTNTDGSFICGCVEGYL
  LQPDNRSCKAKNEPVDRPPVLLIANSQNILATYLSGAQVSTITPTSTRQTTAMDFSYANE
  TVCWVHVGDSAAQTQLKCARMPGLKGFVDEHTINISLSLHHVEQMAIDWLTGNFYFVDDI
  DDRIFVCNRNGDTCVTLLDLELYNPKGIALDPAMGKVFFTDYGQIPKVERCDMDGQNRTK
  LVDSKIVFPHGITLDLVSRLVYWADAYLDYIEVVDYEGKGRQTIIQGILIEHLYGLTVFE
  NYLYATNSDNANAQQKTSVIRVNRFNSTEYQVVTRVDKGGALHIYHQRRQPRVRSHACEN
  DQYGKPGGCSDICLLANSHKARTCRCRSGFSLGSDGKSCKKPEHELFLVYGKGRPGIIRG
  MDMGAKVPDEHMIPIENLMNPRALDFHAETGFIYFADTTSYLIGRQKIDGTERETILKDG
  IHNVEGVAVDWMGDNLYWTDDGPKKTISVARLEKAAQTRKTLIEGKMTHPRAIVVDPLNG
  WMYWTDWEEDPKDSRRGRLERAWMDGSHRDIFVTSKTVLWPNGLSLDIPAGRLYWVDAFY
  DRIETILLNGTDRKIVYEGPELNHAFGLCHHGNYLFWTEYRSGSVYRLERGVGGAPPTVT
  LLRSERPPIFEIRMYDAQQQQVGTNKCRVNNGGCSSLCLATPGSRQCACAEDQVLDADGV
  TCLANPSYVPPPQCQPGEFACANSRCIQERWKCDGDNDCLDNSDEAPALCHQHTCPSDRF
  KCENNRCIPNRWLCDGDNDCGNSEDESNATCSARTCPPNQFSCASGRCIPISWTCDLDDD
  CGDRSDESASCAYPTCFPLTQFTCNNGRCININWRCDNDNDCGDNSDEAGCSHSCSSTQF
  KCNSGRCIPEHWTCDGDNDCGDYSDETHANCTNQATRPPGGCHTDEFQCRLDGLCIPLRW
  RCDGDTDCMDSSDEKSCEGVTHVCDPSVKFGCKDSARCISKAWVCDGDNDCEDNSDEENC
  ESLACRPPSHPCANNTSVCLPPDKLCDGNDDCGDGSDEGELCDQCSLNNGGCSHNCSVAP
  GEGIVCSCPLGMELGPDNHTCQIQSYCAKHLKCSQKCDQNKFSVKCSCYEGWVLEPDGES
  CRSLDPFKPFIIFSNRHEIRRIDLHKGDYSVLVPGLRNTIALDFHLSQSALYWTDVVEDK
  IYRGKLLDNGALTSFEVVIQYGLATPEGLAVDWIAGNIYWVESNLDQIEVAKLDGTLRTT
  LLAGDIEHPRAIALDPRDGILFWTDWDASLPRIEAASMSGAGRRTVHRETGSGGWPNGLT
  VDYLEKRILWIDARSDAIYSARYDGSGHMEVLRGHEFLSHPFAVTLYGGEVYWTDWRTNT
  LAKANKWTGHNVTVVQRTNTQPFDLQVYHPSRQPMAPNPCEANGGQGPCSHLCLINYNRT
  VSCACPHLMKLHKDNTTCYEFKKFLLYARQMEIRGVDLDAPYYNYIISFTVPDIDNVTVL
  DYDAREQRVYWSDVRTQAIKRAFINGTGVETVVSADLPNAHGLAVDWVSRNLFWTSYDTN
  KKQINVARLDGSFKNAVVQGLEQPHGLVVHPLRGKLYWTDGDNISMANMDGSNRTLLFSG
  QKGPVGLAIDFPESKLYWISSGNHTINRCNLDGSGLEVIDAMRSQLGKATALAIMGDKLW
  WADQVSEKMGTCSKADGSGSVVLRNSTTLVMHMKVYDESIQLDHKGTNPCSVNNGDCSQL
  CLPTSETTRSCMCTAGYSLRSGQQACEGVGSFLLYSVHEGIRGIPLDPNDKSDALVPVSG
  TSLAVGIDFHAENDTIYWVDMGLSTISRAKRDQTWREDVVTNGIGRVEGIAVDWIAGNIY
  WTDQGFDVIEVARLNGSFRYVVISQGLDKPRAITVHPEKGYLFWTEWGQYPRIERSRLDG
  TERVVLVNVSISWPNGISVDYQDGKLYWCDARTDKIERIDLETGENREVVLSSNNMDMFS
  VSVFEDFIYWSDRTHANGSIKRGSKDNATDSVPLRTGIGVQLKDIKVFNRDRQKGTNVCA
  VANGGCQQLCLYRGRGQRACACAHGMLAEDGASCREYAGYLLYSERTILKSIHLSDERNL
  NAPVQPFEDPEHMKNVIALAFDYRAGTSPGTPNRIFFSDIHFGNIQQINDDGSRRITIVE
  NVGSVEGLAYHRGWDTLYWTSYTTSTITRHTVDQTRPGAFERETVITMSGDDHPRAFVLD
  ECQNLMFWTNWNEQHPSIMRAALSGANVLTLIEKDIRTPNGLAIDHRAEKLYFSDATLDK
  IERCEYDGSHRYVILKSEPVHPFGLAVYGEHIFWTDWVRRAVQRANKHVGSNMKLLRVDI
  PQQPMGIIAVANDTNSCELSPCRINNGGCQDLCLLTHQGHVNCSCRGGRILQDDLTCRAV
  NSSCRAQDEFECANGECINFSLTCDGVPHCKDKSDEKPSYCNSRRCKKTFRQCSNGRCVS
  NMLWCNGADDCGDGSDEIPCNKTACGVGEFRCRDGTCIGNSSRCNQFVDCEDASDEMNCS
  ATDCSSYFRLGVKGVLFQPCERTSLCYAPSWVCDGANDCGDYSDERDCPGVKRPRCPLNY
  FACPSGRCIPMSWTCDKEDDCEHGEDETHCNKFCSEAQFECQNHRCISKQWLCDGSDDCG
  DGSDEAAHCEGKTCGPSSFSCPGTHVCVPERWLCDGDKDCADGADESIAAGCLYNSTCDD
  REFMCQNRQCIPKHFVCDHDRDCADGSDESPECEYPTCGPSEFRCANGRCLSSRQWECDG
  ENDCHDQSDEAPKNPHCTSQEHKCNASSQFLCSSGRCVAEALLCNGQDDCGDSSDERGCH
  INECLSRKLSGCSQDCEDLKIGFKCRCRPGFRLKDDGRTCADVDECSTTFPCSQRCINTH
  GSYKCLCVEGYAPRGGDPHSCKAVTDEEPFLIFANRYYLRKLNLDGSNYTLLKQGLNNAV
  ALDFDYREQMIYWTDVTTQGSMIRRMHLNGSNVQVLHRTGLSNPDGLAVDWVGGNLYWCD
  KGRDTIEVSKLNGAYRTVLVSSGLREPRALVVDVQNGYLYWTDWGDHSLIGRIGMDGSSR
  SVIVDTKITWPNGLTLDYVTERIYWADAREDYIEFASLDGSNRHVVLSQDIPHIFALTLF
  EDYVYWTDWETKSINRAHKTTGTNKTLLISTLHRPMDLHVFHALRQPDVPNHPCKVNNGG
  CSNLCLLSPGGGHKCACPTNFYLGSDGRTCVSNCTASQFVCKNDKCIPFWWKCDTEDDCG
  DHSDEPPDCPEFKCRPGQFQCSTGICTNPAFICDGDNDCQDNSDEANCDIHVCLPSQFKC
  TNTNRCIPGIFRCNGQDNCGDGEDERDCPEVTCAPNQFQCSITKRCIPRVWVCDRDNDCV
  DGSDEPANCTQMTCGVDEFRCKDSGRCIPARWKCDGEDDCGDGSDEPKEECDERTCEPYQ
  FRCKNNRCVPGRWQCDYDNDCGDNSDEESCTPRPCSESEFSCANGRCIAGRWKCDGDHDC
  ADGSDEKDCTPRCDMDQFQCKSGHCIPLRWRCDADADCMDGSDEEACGTGVRTCPLDEFQ
  CNNTLCKPLAWKCDGEDDCGDNSDENPEECARFVCPPNRPFRCKNDRVCLWIGRQCDGTD
  NCGDGTDEEDCEPPTAHTTHCKDKKEFLCRNQRCLSSSLRCNMFDDCGDGSDEEDCSIDP
  KLTSCATNASICGDEARCVRTEKAAYCACRSGFHTVPGQPGCQDINECLRFGTCSQLCNN
  TKGGHLCSCARNFMKTHNTCKAEGSEYQVLYIADDNEIRSLFPGHPHSAYEQAFQGDESV
  RIDAMDVHVKAGRVYWTNWHTGTISYRSLPPAAPPTTSNRHRRQIDRGVTHLNISGLKMP
  RGIAIDWVAGNVYWTDSGRDVIEVAQMKGENRKTLISGMIDEPHAIVVDPLRGTMYWSDW
  GNHPKIETAAMDGTLRETLVQDNIQWPTGLAVDYHNERLYWADAKLSVIGSIRLNGTDPI
  VAADSKRGLSHPFSIDVFEDYIYGVTYINNRVFKIHKFGHSPLVNLTGGLSHASDVVLYH
  QHKQPEVTNPCDRKKCEWLCLLSPSGPVCTCPNGKRLDNGTCVPVPSPTPPPDAPRPGTC
  NLQCFNGGSCFLNARRQPKCRCQPRYTGDKCELDQCWEHCRNGGTCAASPSGMPTCRCPT
  GFTGPKCTQQVCAGYCANNSTCTVNQGNQPQCRCLPGFLGDRCQYRQCSGYCENFGTCQM
  AADGSRQCRCTAYFEGSRCEVNKCSRCLEGACVVNKQSGDVTCNCTDGRVAPSCLTCVGH
  CSNGGSCTMNSKMMPECQCPPHMTGPRCEEHVFSQQQPGHIASILIPLLLLLLLVLVAGV
  VFWYKRRVQGAKGFQHQRMTNGAMNVEIGNPTYKMYEGGEPDDVGGLLDADFALDPDKPT
  NFTNPVYATLYMGGHGSRHSLASTDEKRELLGRGPEDEIGDPLA

• Sequence length: 4544

Pathways

KEGG:

Efferocytosis
Cholesterol metabolism
Alzheimer disease
Malaria

Reactome:

Scavenging of heme from plasma
Retinoid metabolism and transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma, Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs-1, 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, 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	30510241, 31089142
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, rs-1, 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	30510241, 31089142
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21743468
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Aortic aneurysm	Aortic Aneurysm, Abdominal	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs-1, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	22055160, 27899403
Migraine	Cervical Migraine Syndrome, Migraine Disorders	rs794727411	21666692, 23793025, 27322543, 22683712, 27182965
Moyamoya disease	Moyamoya Disease, Moyamoya disease 1	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs-1, rs2079443410	29273593
Colonic neoplasms	Malignant tumor of colon	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	31089142, 30510241
Keratosis pilaris	Keratosis pilaris	rs483353013

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	20493228
Abdominal migraine	Abdominal Migraine		21666692
Atrophoderma vermiculata	Atrophoderma vermiculatum, Atrophoderma vermiculata		26142438
Colorectal adenoma	Adenoma of large intestine		30510241
Comedone	Comedone
Common migraine	Common Migraine		22683712, 23793025, 27322543
Confusional migraine	Acute Confusional Migraine		21666692
Excessive tearing	Excessive tearing
Hemicrania migraine	Hemicrania migraine		21666692
Keratosis follicularis spinulosa decalvans	Keratosis pilaris decalvans, Keratosis follicularis spinulosa decalvans		26142438
Status migrainosus	Status Migrainosus		21666692
Ulerythema ophryogenesis	Burnett Schwartz Berberian syndrome		26142438