LRP2 (LDL receptor related protein 2)

Gene

• Entrez ID: 4036
• Gene name: LDL receptor related protein 2
• Gene symbol: LRP2
• Synonyms: DBS, GP330, LRP-2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycopr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35942532	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338743	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80338744	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs80338745	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs80338747	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80338748	C>T	Pathogenic	Splice donor variant
rs80338749	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338750	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338751	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338752	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs80338753	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338754	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs111733491	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs138269726	C>T	Pathogenic	Coding sequence variant, missense variant
rs140272085	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs140918583	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142245618	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144284604	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs144322413	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144451000	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs147058423	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150752263	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202057289	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs587776717	C>T	Pathogenic	Splice acceptor variant
rs746752313	C>T	Pathogenic	Splice donor variant
rs759025536	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs760114690	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs772158739	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786205122	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520861	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796497	T>C	Likely-pathogenic	Splice acceptor variant
rs1064796610	C>A	Likely-pathogenic	Splice acceptor variant
rs1358532875	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1553504456	A>-	Pathogenic	Stop gained, coding sequence variant
rs1559043276	A>C	Pathogenic	Stop gained, coding sequence variant
rs1574121486	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574132879	->C	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048169	hsa-miR-196a-5p	CLASH	23622248
MIRT1117932	hsa-miR-1197	CLIP-seq
MIRT1117933	hsa-miR-1286	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT1117937	hsa-miR-204	CLIP-seq
MIRT1117938	hsa-miR-2054	CLIP-seq
MIRT1117939	hsa-miR-211	CLIP-seq
MIRT1117940	hsa-miR-302a	CLIP-seq
MIRT1117941	hsa-miR-302b	CLIP-seq
MIRT1117942	hsa-miR-302c	CLIP-seq
MIRT1117943	hsa-miR-302d	CLIP-seq
MIRT1117944	hsa-miR-302e	CLIP-seq
MIRT1117945	hsa-miR-372	CLIP-seq
MIRT1117946	hsa-miR-373	CLIP-seq
MIRT1117947	hsa-miR-380	CLIP-seq
MIRT1117948	hsa-miR-4436a	CLIP-seq
MIRT1117949	hsa-miR-4446-5p	CLIP-seq
MIRT1117950	hsa-miR-4722-5p	CLIP-seq
MIRT1117951	hsa-miR-4755-5p	CLIP-seq
MIRT1117952	hsa-miR-4790-3p	CLIP-seq
MIRT1117953	hsa-miR-519a	CLIP-seq
MIRT1117954	hsa-miR-519b-3p	CLIP-seq
MIRT1117955	hsa-miR-519c-3p	CLIP-seq
MIRT1117956	hsa-miR-520a-3p	CLIP-seq
MIRT1117957	hsa-miR-520b	CLIP-seq
MIRT1117958	hsa-miR-520c-3p	CLIP-seq
MIRT1117959	hsa-miR-520d-3p	CLIP-seq
MIRT1117960	hsa-miR-520e	CLIP-seq
MIRT1117961	hsa-miR-623	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263694	hsa-miR-1225-3p	CLIP-seq
MIRT2263695	hsa-miR-1233	CLIP-seq
MIRT2263696	hsa-miR-1238	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT2263697	hsa-miR-130a	CLIP-seq
MIRT2263698	hsa-miR-130b	CLIP-seq
MIRT2263699	hsa-miR-1324	CLIP-seq
MIRT2263700	hsa-miR-148a	CLIP-seq
MIRT2263701	hsa-miR-148b	CLIP-seq
MIRT2263702	hsa-miR-152	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT2263703	hsa-miR-19a	CLIP-seq
MIRT2263704	hsa-miR-19b	CLIP-seq
MIRT2263705	hsa-miR-214	CLIP-seq
MIRT2263706	hsa-miR-301a	CLIP-seq
MIRT2263707	hsa-miR-301b	CLIP-seq
MIRT2263708	hsa-miR-3167	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263709	hsa-miR-3619-5p	CLIP-seq
MIRT2263710	hsa-miR-3664-3p	CLIP-seq
MIRT2263711	hsa-miR-3666	CLIP-seq
MIRT2263712	hsa-miR-3689a-3p	CLIP-seq
MIRT2263713	hsa-miR-3689c	CLIP-seq
MIRT2263714	hsa-miR-376a	CLIP-seq
MIRT2263715	hsa-miR-376b	CLIP-seq
MIRT2263716	hsa-miR-3929	CLIP-seq
MIRT2263717	hsa-miR-4276	CLIP-seq
MIRT2263718	hsa-miR-4289	CLIP-seq
MIRT2263719	hsa-miR-4291	CLIP-seq
MIRT2263720	hsa-miR-4295	CLIP-seq
MIRT2263721	hsa-miR-4419b	CLIP-seq
MIRT2263722	hsa-miR-4433	CLIP-seq
MIRT2263723	hsa-miR-4459	CLIP-seq
MIRT2263724	hsa-miR-4478	CLIP-seq
MIRT2263725	hsa-miR-454	CLIP-seq
MIRT2263726	hsa-miR-4695-5p	CLIP-seq
MIRT2263727	hsa-miR-4724-3p	CLIP-seq
MIRT2263728	hsa-miR-4728-5p	CLIP-seq
MIRT2263729	hsa-miR-4768-3p	CLIP-seq
MIRT2263730	hsa-miR-485-5p	CLIP-seq
MIRT2263731	hsa-miR-510	CLIP-seq
MIRT2263732	hsa-miR-518a-5p	CLIP-seq
MIRT2263733	hsa-miR-527	CLIP-seq
MIRT2263734	hsa-miR-549	CLIP-seq
MIRT2263735	hsa-miR-556-3p	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT2263736	hsa-miR-761	CLIP-seq
MIRT2263737	hsa-miR-876-5p	CLIP-seq
MIRT2263738	hsa-miR-922	CLIP-seq
MIRT2563037	hsa-miR-3675-3p	CLIP-seq
MIRT2563038	hsa-miR-4432	CLIP-seq
MIRT2563039	hsa-miR-451b	CLIP-seq
MIRT2563040	hsa-miR-4696	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0005509	Function	Calcium ion binding	IDA	23275343
GO:0005515	Function	Protein binding	IPI	9773776, 23825075
GO:0005764	Component	Lysosome	TAS	7768901
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	TAS	7768901
GO:0006897	Process	Endocytosis	TAS	7768901
GO:0006898	Process	Receptor-mediated endocytosis	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	IDA	23825075
GO:0006898	Process	Receptor-mediated endocytosis	ISS	9228033
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0009897	Component	External side of plasma membrane	ISS
GO:0015031	Process	Protein transport	IDA	17324488
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	23825075
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017124	Function	SH3 domain binding	IEA
GO:0030001	Process	Metal ion transport	IDA	15126248
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0030900	Process	Forebrain development	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031904	Component	Endosome lumen	IEA
GO:0031994	Function	Insulin-like growth factor I binding	ISS
GO:0035904	Process	Aorta development	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042562	Function	Hormone binding	IBA	21873635
GO:0043066	Process	Negative regulation of apoptotic process	IGI	27241555
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	ISS
GO:0044321	Process	Response to leptin	IDA	17324488
GO:0045056	Process	Transcytosis	ISS
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0051087	Function	Chaperone binding	IPI	9228033
GO:0051087	Function	Chaperone binding	ISS	9228033
GO:0051897	Process	Positive regulation of protein kinase B signaling	IGI	27241555
GO:0060068	Process	Vagina development	ISS
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0061024	Process	Membrane organization	TAS
GO:0061156	Process	Pulmonary artery morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070447	Process	Positive regulation of oligodendrocyte progenitor proliferation	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	ISS
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0140058	Process	Neuron projection arborization	ISS
GO:0140318	Function	Protein transporter activity	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904447	Process	Folate import across plasma membrane	ISS
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	ISS	9228033

Other IDs

• MIM: 600073
• HGNC: 6694
• e!Ensembl: ENSG00000081479

Protein

• UniProt ID: P98164
• Protein name: Low-density lipoprotein receptor-related protein 2 (LRP-2) (Glycoprotein 330) (gp330) (Megalin)
• Protein function: Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B
• PDB: 2M0P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	26 → 62	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	65 → 103	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	106 → 142	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	181 → 217	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	220 → 256	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	264 → 301	Low-density lipoprotein receptor domain class A	Repeat
  PF00058	Ldl_recept_b	479 → 519	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	522 → 566	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	838 → 879	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	1024 → 1060	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1065 → 1101	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1107 → 1143	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1147 → 1183	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1185 → 1222	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1228 → 1266	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1269 → 1305	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	1390 → 1428	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	1521 → 1561	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1566 → 1607	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1883 → 1928	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	2022 → 2058		Domain
  PF00058	Ldl_recept_b	2202 → 2243	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2519 → 2560	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2563 → 2601	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	2698 → 2736	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2739 → 2775	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2778 → 2817	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2820 → 2859	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2862 → 2899	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2904 → 2943	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2946 → 2988	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2991 → 3027	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3030 → 3068	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3073 → 3109	Low-density lipoprotein receptor domain class A	Repeat
  PF12662	cEGF	3132 → 3155	Complement Clr-like EGF-like	Domain
  PF00058	Ldl_recept_b	3282 → 3330	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	3333 → 3374	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	3377 → 3417	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	3510 → 3548	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3551 → 3589	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3592 → 3630	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3633 → 3671	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3676 → 3714	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3717 → 3754	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3757 → 3793	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3796 → 3832	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3840 → 3878	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3881 → 3920	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3926 → 3962	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	4007 → 4047	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	4154 → 4194	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	4197 → 4238	Low-density lipoprotein receptor repeat class B	Repeat

• Sequence:

  MDRGPAAVACTLLLALVACLAPASGQECDSAHFRCGSGHCIPADWRCDGTKDCSDDADEI
  GCAVVTCQQGYFKCQSEGQCIPNSWVCDQDQDCDDGSDERQDCSQSTCSSHQITCSNGQC
  IPSEYRCDHVRDCPDGADENDCQYPTCEQLTCDNGACYNTSQKCDWKVDCRDSSDEINCT
  EICLHNEFSCGNGECIPRAYVCDHDNDCQDGSDEHACNYPTCGGYQFTCPSGRCIYQNWV
  CDGEDDCKDNGDEDGCESGPHDVHKCSPREWSCPESGRCISIYKVCDGILDCPGREDENN
  TSTGKYCSMTLCSALNCQYQCHETPYGGACFCPPGYIINHNDSRTCVEFDDCQIWGICDQ
  KCESRPGRHLCHCEEGYILERGQYCKANDSFGEASIIFSNGRDLLIGDIHGRSFRILVES
  QNRGVAVGVAFHYHLQRVFWTDTVQNKVFSVDINGLNIQEVLNVSVETPENLAVDWVNNK
  IYLVETKVNRIDMVNLDGSYRVTLITENLGHPRGIAVDPTVGYLFFSDWESLSGEPKLER
  AFMDGSNRKDLVKTKLGWPAGVTLDMISKRVYWVDSRFDYIETVTYDGIQRKTVVHGGSL
  IPHPFGVSLFEGQVFFTDWTKMAVLKANKFTETNPQVYYQASLRPYGVTVYHSLRQPYAT
  NPCKDNNGGCEQVCVLSHRTDNDGLGFRCKCTFGFQLDTDERHCIAVQNFLIFSSQVAIR
  GIPFTLSTQEDVMVPVSGNPSFFVGIDFDAQDSTIFFSDMSKHMIFKQKIDGTGREILAA
  NRVENVESLAFDWISKNLYWTDSHYKSISVMRLADKTRRTVVQYLNNPRSVVVHPFAGYL
  FFTDWFRPAKIMRAWSDGSHLLPVINTTLGWPNGLAIDWAASRLYWVDAYFDKIEHSTFD
  GLDRRRLGHIEQMTHPFGLAIFGEHLFFTDWRLGAIIRVRKADGGEMTVIRSGIAYILHL
  KSYDVNIQTGSNACNQPTHPNGDCSHFCFPVPNFQRVCGCPYGMRLASNHLTCEGDPTNE
  PPTEQCGLFSFPCKNGRCVPNYYLCDGVDDCHDNSDEQLCGTLNNTCSSSAFTCGHGECI
  PAHWRCDKRNDCVDGSDEHNCPTHAPASCLDTQYTCDNHQCISKNWVCDTDNDCGDGSDE
  KNCNSTETCQPSQFNCPNHRCIDLSFVCDGDKDCVDGSDEVGCVLNCTASQFKCASGDKC
  IGVTNRCDGVFDCSDNSDEAGCPTRPPGMCHSDEFQCQEDGICIPNFWECDGHPDCLYGS
  DEHNACVPKTCPSSYFHCDNGNCIHRAWLCDRDNDCGDMSDEKDCPTQPFRCPSWQWQCL
  GHNICVNLSVVCDGIFDCPNGTDESPLCNGNSCSDFNGGCTHECVQEPFGAKCLCPLGFL
  LANDSKTCEDIDECDILGSCSQHCYNMRGSFRCSCDTGYMLESDGRTCKVTASESLLLLV
  ASQNKIIADSVTSQVHNIYSLVENGSYIVAVDFDSISGRIFWSDATQGKTWSAFQNGTDR
  RVVFDSSIILTETIAIDWVGRNLYWTDYALETIEVSKIDGSHRTVLISKNLTNPRGLALD
  PRMNEHLLFWSDWGHHPRIERASMDGSMRTVIVQDKIFWPCGLTIDYPNRLLYFMDSYLD
  YMDFCDYNGHHRRQVIASDLIIRHPYALTLFEDSVYWTDRATRRVMRANKWHGGNQSVVM
  YNIQWPLGIVAVHPSKQPNSVNPCAFSRCSHLCLLSSQGPHFYSCVCPSGWSLSPDLLNC
  LRDDQPFLITVRQHIIFGISLNPEVKSNDAMVPIAGIQNGLDVEFDDAEQYIYWVENPGE
  IHRVKTDGTNRTVFASISMVGPSMNLALDWISRNLYSTNPRTQSIEVLTLHGDIRYRKTL
  IANDGTALGVGFPIGITVDPARGKLYWSDQGTDSGVPAKIASANMDGTSVKTLFTGNLEH
  LECVTLDIEEQKLYWAVTGRGVIERGNVDGTDRMILVHQLSHPWGIAVHDSFLYYTDEQY
  EVIERVDKATGANKIVLRDNVPNLRGLQVYHRRNAAESSNGCSNNMNACQQICLPVPGGL
  FSCACATGFKLNPDNRSCSPYNSFIVVSMLSAIRGFSLELSDHSETMVPVAGQGRNALHV
  DVDVSSGFIYWCDFSSSVASDNAIRRIKPDGSSLMNIVTHGIGENGVRGIAVDWVAGNLY
  FTNAFVSETLIEVLRINTTYRRVLLKVTVDMPRHIVVDPKNRYLFWADYGQRPKIERSFL
  DCTNRTVLVSEGIVTPRGLAVDRSDGYVYWVDDSLDIIARIRINGENSEVIRYGSRYPTP
  YGITVFENSIIWVDRNLKKIFQASKEPENTEPPTVIRDNINWLRDVTIFDKQVQPRSPAE
  VNNNPCLENNGGCSHLCFALPGLHTPKCDCAFGTLQSDGKNCAISTENFLIFALSNSLRS
  LHLDPENHSPPFQTINVERTVMSLDYDSVSDRIYFTQNLASGVGQISYATLSSGIHTPTV
  IASGIGTADGIAFDWITRRIYYSDYLNQMINSMAEDGSNRTVIARVPKPRAIVLDPCQGY
  LYWADWDTHAKIERATLGGNFRVPIVNSSLVMPSGLTLDYEEDLLYWVDASLQRIERSTL
  TGVDREVIVNAAVHAFGLTLYGQYIYWTDLYTQRIYRANKYDGSGQIAMTTNLLSQPRGI
  NTVVKNQKQQCNNPCEQFNGGCSHICAPGPNGAECQCPHEGNWYLANNRKHCIVDNGERC
  GASSFTCSNGRCISEEWKCDNDNDCGDGSDEMESVCALHTCSPTAFTCANGRCVQYSYRC
  DYYNDCGDGSDEAGCLFRDCNATTEFMCNNRRCIPREFICNGVDNCHDNNTSDEKNCPDR
  TCQSGYTKCHNSNICIPRVYLCDGDNDCGDNSDENPTYCTTHTCSSSEFQCASGRCIPQH
  WYCDQETDCFDASDEPASCGHSERTCLADEFKCDGGRCIPSEWICDGDNDCGDMSDEDKR
  HQCQNQNCSDSEFLCVNDRPPDRRCIPQSWVCDGDVDCTDGYDENQNCTRRTCSENEFTC
  GYGLCIPKIFRCDRHNDCGDYSDERGCLYQTCQQNQFTCQNGRCISKTFVCDEDNDCGDG
  SDELMHLCHTPEPTCPPHEFKCDNGRCIEMMKLCNHLDDCLDNSDEKGCGINECHDPSIS
  GCDHNCTDTLTSFYCSCRPGYKLMSDKRTCVDIDECTEMPFVCSQKCENVIGSYICKCAP
  GYLREPDGKTCRQNSNIEPYLIFSNRYYLRNLTIDGYFYSLILEGLDNVVALDFDRVEKR
  LYWIDTQRQVIERMFLNKTNKETIINHRLPAAESLAVDWVSRKLYWLDARLDGLFVSDLN
  GGHRRMLAQHCVDANNTFCFDNPRGLALHPQYGYLYWADWGHRAYIGRVGMDGTNKSVII
  STKLEWPNGITIDYTNDLLYWADAHLGYIEYSDLEGHHRHTVYDGALPHPFAITIFEDTI
  YWTDWNTRTVEKGNKYDGSNRQTLVNTTHRPFDIHVYHPYRQPIVSNPCGTNNGGCSHLC
  LIKPGGKGFTCECPDDFRTLQLSGSTYCMPMCSSTQFLCANNEKCIPIWWKCDGQKDCSD
  GSDELALCPQRFCRLGQFQCSDGNCTSPQTLCNAHQNCPDGSDEDRLLCENHHCDSNEWQ
  CANKRCIPESWQCDTFNDCEDNSDEDSSHCASRTCRPGQFRCANGRCIPQAWKCDVDNDC
  GDHSDEPIEECMSSAHLCDNFTEFSCKTNYRCIPKWAVCNGVDDCRDNSDEQGCEERTCH
  PVGDFRCKNHHCIPLRWQCDGQNDCGDNSDEENCAPRECTESEFRCVNQQCIPSRWICDH
  YNDCGDNSDERDCEMRTCHPEYFQCTSGHCVHSELKCDGSADCLDASDEADCPTRFPDGA
  YCQATMFECKNHVCIPPYWKCDGDDDCGDGSDEELHLCLDVPCNSPNRFRCDNNRCIYSH
  EVCNGVDDCGDGTDETEEHCRKPTPKPCTEYEYKCGNGHCIPHDNVCDDADDCGDWSDEL
  GCNKGKERTCAENICEQNCTQLNEGGFICSCTAGFETNVFDRTSCLDINECEQFGTCPQH
  CRNTKGSYECVCADGFTSMSDRPGKRCAAEGSSPLLLLPDNVRIRKYNLSSERFSEYLQD
  EEYIQAVDYDWDPKDIGLSVVYYTVRGEGSRFGAIKRAYIPNFESGRNNLVQEVDLKLKY
  VMQPDGIAVDWVGRHIYWSDVKNKRIEVAKLDGRYRKWLISTDLDQPAAIAVNPKLGLMF
  WTDWGKEPKIESAWMNGEDRNILVFEDLGWPTGLSIDYLNNDRIYWSDFKEDVIETIKYD
  GTDRRVIAKEAMNPYSLDIFEDQLYWISKEKGEVWKQNKFGQGKKEKTLVVNPWLTQVRI
  FHQLRYNKSVPNLCKQICSHLCLLRPGGYSCACPQGSSFIEGSTTECDAAIELPINLPPP
  CRCMHGGNCYFDETDLPKCKCPSGYTGKYCEMAFSKGISPGTTAVAVLLTILLIVVIGAL
  AIAGFFHYRRTGSLLPALPKLPSLSSLVKPSENGNGVTFRSGADLNMDIGVSGFGPETAI
  DRSMAMSEDFVMEMGKQPIIFENPMYSARDSAVKVVQPIQVTVSENVDNKNYGSPINPSE
  IVPETNPTSPAADGTQVTKWNLFKRKSKQTTNFENPIYAQMENEQKESVAATPPPSPSLP
  AKPKPPSRRDPTPTYSATEDTFKDTANLVKEDSEV

• Sequence length: 4655

Pathways

KEGG:

Hedgehog signaling pathway
Thyroid hormone synthesis
Cholesterol metabolism

Reactome:

Vitamin D (calciferol) metabolism
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Retinoid metabolism and transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Donnai-barrow syndrome	Donnai-Barrow syndrome	rs80338747, rs80338751, rs587776717, rs80338749, rs80338748, rs80338752, rs80338745, rs80338744, rs80338753, rs80338754, rs786205122, rs760114690, rs746752313, rs1358532875, rs1559043276	17632512, 23033978, 18553518, 12923867
Hearing loss	Sensorineural Hearing Loss (disorder), Sensory hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060	17632512
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	17632512
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	23033978
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	28739605
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	22919386
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, rs1057516451, rs376894444, rs746875134, rs147030232, rs1057517692, rs1057517844, rs374536346, rs116471343, rs865990202, rs61752902, rs387906385, rs1057517869, rs1057517700, rs543698823, rs752179149, rs1057517857, rs1057517982, rs62645894, rs1057517715, rs1057518922, rs1057518955, rs775796581, rs1057518793, rs368088025, rs1057519165, rs1057519193, rs556788423, rs1057519342, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs1057521112, rs763797356, rs1057521475, rs766246531, rs1060499783, rs747656448, rs745340459, rs1166022838, rs775950661, rs375413604, rs1064793289, rs200712760, rs137954284, rs1064793014, rs762150575, rs141823837, rs1064793006, rs769317780, rs559155109, rs753925314, rs769671323, rs199740930, rs1064794848, rs771898125, rs775283269, rs1064794012, rs763762899, rs139842473, rs777849213, rs112005636, rs1064797133, rs1064797134, rs770011113, rs1064797247, rs777497868, rs773065850, rs1064797365, rs1064797368, rs752159903, rs866978361, rs1085307968, rs1375507464, rs772725807, rs201320564, rs776896038, rs764742792, rs1554612159, rs62645747, rs753886165, rs753614067, rs140451304, rs555164150, rs539192853, rs766379510, rs281865531, rs369523378, rs1553192715, rs72664214, rs72653787, rs1473611414, rs1455470131, rs752762669, rs369775002, rs145282040, rs773914330, rs1553263218, rs1003869920, rs1553252388, rs762159022, rs751111524, rs746551311, rs780308389, rs199683808, rs1553186896, rs1297857869, rs776757706, rs778234759, rs1435203678, rs1553188588, rs1553188682, rs1553189507, rs1553190559, rs1553190664, rs1553192432, rs1553192682, rs1553192726, rs1553193813, rs764759172, rs1356104318, rs541717028, rs111733491, rs1553512879, rs1553513437, rs569826109, rs367658438, rs750987123, rs1553403585, rs754995805, rs758291149, rs1553711564, rs1553780837, rs373331232, rs780697796, rs370898371, rs753942596, rs144484128, rs146591309, rs777309662, rs1554186385, rs1554269053, rs1554270834, rs181169439, rs1554183440, rs930421180, rs1554214453, rs760798455, rs764163418, rs866395428, rs765129639, rs1554519555, rs1449723475, rs1554519651, rs769601671, rs977790637, rs1554857529, rs756678484, rs1554824273, rs906525288, rs1555036138, rs1555037395, rs1555096248, rs1555099048, rs531851447, rs1199012623, rs766096417, rs377257254, rs199830550, rs756806434, rs1352458826, rs189234741, rs752997229, rs771450991, rs1555792415, rs1555811525, rs758316679, rs748531024, rs778612831, rs1555870809, rs749009747, rs1555874538, rs1555961832, rs1555961852, rs1556318633, rs1557106557, rs1555955061, rs1554998040, rs1554628460, rs1461319754, rs770390524, rs1553901823, rs1347914291, rs1554519822, rs555421894, rs1556297584, rs1556300610, rs1556300621, rs1554264613, rs758052634, rs775836730, rs1555208870, rs1409688898, rs763371769, rs1554186463, rs779450345, rs778606847, rs754768875, rs765429911, rs1272411609, rs1349849938, rs1002670900, rs1553781140, rs373792616, rs200335504, rs1369414978, rs1366496013, rs1555202584, rs567573386, rs1365490247, rs141386891, rs534534437, rs769838859, rs1201940872, rs753090404, rs138958917, rs761469964, rs1460604134, rs748357067, rs1429786931, rs201730567, rs1553187162, rs1553188071, rs765063151, rs780910490, rs143344549, rs866982675, rs769215629, rs752521456, rs1553189179, rs751176116, rs1244761864, rs765402802, rs782077721, rs143745703, rs201823777, rs1553188916, rs1309140887, rs1431752515, rs1554963305, rs1555965107, rs142285818, rs1307312865, rs1554269081, rs769512989, rs1555225566, rs1553196583, rs951379922, rs1554963058, rs1555200648, rs1555550617, rs1555968248, rs1555098634, rs199636364, rs768161313, rs1553252499, rs1177257719, rs200871041, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs747063294, rs367674026, rs779572631, rs1553257707, rs746447649, rs1431048303, rs749452910, rs1553273330, rs779716464, rs1485173724, rs1553261372, rs1553250150, rs1553299079, rs199782530, rs370327669, rs199982344, rs1553261479, rs988693758, rs760302201, rs1553271001, rs1553313810, rs770383273, rs993185407, rs483353054, rs780779563, rs1553270960, rs775293551, rs754374132, rs1553272176, rs745350407, rs756623509, rs767078782, rs1342455785, rs1177198729, rs372927796, rs748961218, rs771583281, rs1188025733, rs868562952, rs1553250952, rs758303489, rs1484339054, rs781223647, rs1187839124, rs767414973, rs1225343345, rs761292021, rs754702823, rs1553409710, rs1476205467, rs1553421626, rs1553941304, rs1326370032, rs1427770112, rs528919874, rs750840208, rs752736741, rs1165454778, rs751629543, rs1554537807, rs747240928, rs143842048, rs1052030, rs1472566324, rs1555067667, rs1156913215, rs760693838, rs1555454566, rs1555521379, rs1273181642, rs1367927635, rs544773389, rs773862084, rs1555520142, rs764164384, rs779690256, rs750506474, rs878962682, rs116733939, rs1565083843, rs748983904, rs1457937638, rs1189889920, rs746141070, rs868349465, rs1562140604, rs1563329888, rs1563983151, rs776289402, rs1566561006, rs777989874, 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rs1208195953, rs752619497, rs755429480, rs375548374, rs1600335148, rs1254494198, rs1582929649, rs1571848744, rs1571540258, rs368687374, rs1437993640, rs779743222, rs774215025, rs763272975, rs1585563283, rs1587620892, rs776634113, rs1592521438, rs1592521712, rs1592784618, rs1420750126, rs1594867516, rs281865302, rs890453675, rs1577301137, rs1581735836, rs1656419435, rs1386612395, rs1660298900, rs2039692173, rs1659430629, rs1659900155, rs1661098509, rs1661577361, rs751644763, rs1734066547, rs1737442897, rs1761021773, rs1800111659, rs986748364, rs1488052513, rs1766367970, rs1300490966, rs368159852, rs886210482, rs1806033844, rs1806128576, rs748084580, rs1942169028, rs745934202, rs1400806789, rs1257334132, rs2073964950, rs1314226094, rs1927824776, rs2067124487, rs2067127275, rs1854473658, rs1601943325, rs2067985165, rs2067987832, rs1924521431, rs1662216783, rs1571801788, rs1594280740, rs34713174, rs1197863938, rs1278603247, rs778645644, rs766357080, rs1039053911, rs768445391, rs767729255, rs1570373408, rs747950242, rs151141842, rs369184026, rs768713412, rs1657798642, rs1424639717, rs769609970, rs201529124, rs369973540, rs1306732480, rs1368508052, rs1660843703, rs542919944, rs1661575232, rs1005271380, rs1191816747, rs375110174, rs188492864, rs769632183, rs753107507, rs748396645, rs2063883437, rs749842881, rs201782746, rs771980888, rs759184240, rs2084776162, rs142771862, rs368213921, rs772867912, rs145605739, rs760042062, rs1372091680, rs1745312538, rs754916169, rs1355690902, rs1336317768, rs1299355731, rs184722374, rs1245304444, rs1389794536, rs780433094, rs1388177618, rs748370008, rs767005321, rs1231321479, rs1806041389, rs1365908727, rs761969118, rs927241903, rs1844909478, rs28940275, rs775791299, rs111033187, rs778934538, rs2033943937, rs1033594764, rs535922252, rs745741473, rs138370992, rs759505780, rs76076446, rs749738655, rs1968169319, rs1270675463, rs1386256334, rs1924904597, rs2065670611, rs1659900228, rs529598960, rs777673930, rs1228475082, rs1772614934, rs201086679, rs748946491, rs767630412, rs144169488, rs746128841, rs1174120641, rs199537336, rs767366723, rs1767600988, rs1769267226, rs1955083613, rs1826338661, rs1657981991, rs1658082808, rs1658656722, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664643556, rs766411096, rs1664671663, rs1426006136, rs1558138741, rs1665100409, rs1665102146, rs1450635782, rs760544654, rs1216093309, rs1656416727, rs1656646221, rs1656901821, rs1657796004, rs1657799720, rs1419913594, rs1485393201, rs755480221, rs1657961646, rs1657976232, rs1657992342, rs1657997730, rs1658179729, rs1659887829, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1663836291, rs1664810877, rs1665132445, rs1665453379, rs755032078, rs2032220940, rs2032459600, rs769198746, rs2034687946, rs2034852728, rs2035704899, rs2036051613, rs2036054600, rs2036066604, rs757154662, rs2037018431, rs766370703, rs2037679829, rs757525434, rs2038566220, rs1195779037, rs2038568675, rs2039690812, rs1643875847, rs1645824260, rs562037932, rs886042220, rs1444234037, rs779585931, rs1659061509, rs62642580, rs1362964563, rs1242866408, rs1659430143, rs1659452428, rs757449019, rs1659538743, rs1659721337, rs1659840790, rs763911476, rs751844313, rs1340989734, rs1659953619, rs1660137001, rs61750148, rs1660166963, rs1046550021, rs1283350532, rs1660480045, rs1660481072, rs373868915, rs1237125868, rs1660532299, rs757302286, rs1661162346, rs1661163134, rs374224955, rs1448468321, rs1661625047, rs1661663692, rs1661669685, rs868543294, rs1641704371, rs771336246, rs1684627892, rs1684979540, rs1252719064, rs774755041, rs1676904823, rs775776288, rs746238212, rs1278226911, rs1238123416, rs1689010156, rs1689011389, rs200711686, rs1685573282, rs1668402514, rs1366937730, rs761147595, rs1182748194, rs1558488513, rs1667504255, rs1667506537, rs1196801124, rs753619551, rs1558490060, rs866543181, rs762973163, rs1270472063, rs1205704532, rs1671925979, rs774594040, rs748709116, rs749339938, rs1315351235, rs541559170, rs1672973685, rs1674967197, rs1412574975, rs376091780, rs556400279, rs2063893838, rs2063918440, rs2078763986, rs2078764558, rs1692508715, rs761554853, rs762668060, rs943314733, rs1227761587, rs1692915919, rs779023431, rs1692928194, rs1692930941, rs201747279, rs183838250, rs779626652, rs1706422873, rs1706423076, rs1706423758, rs771246451, rs1706439944, rs770399625, rs1472199114, rs1706473340, rs1706474422, rs1706627397, rs1706755871, rs746003280, rs1706843510, rs764109533, rs149079952, rs2084757329, rs1415160298, rs1578278438, rs104893788, rs2084785435, rs1560046837, rs1402468701, rs1578280588, rs984572250, rs1578281706, rs2084801700, rs1235835151, rs1715594024, rs1732788163, rs778059585, rs762782183, rs974173261, rs1560708847, rs1328767121, rs1718726537, rs761152494, rs1743846367, rs369063468, rs775749608, rs768694789, rs1738673948, rs1738698692, rs369717052, rs1237954156, rs767438881, rs1734075026, rs1735848896, rs1736334634, rs761619791, rs747970185, rs1737428529, rs1737429976, rs373037737, rs1737503567, rs746552548, rs759563967, rs1754021035, rs1760621228, rs1746018557, rs1185617030, rs1748947002, rs1292664749, rs1754556067, rs1755688091, rs778188580, rs1758488956, rs1764301206, rs1364707671, rs1784887448, rs781198326, rs1770116834, rs751589956, rs766181526, rs774204108, rs760829254, rs1305999116, rs1331834680, rs1768016995, rs1799985749, rs1799986608, rs1799988458, rs1800110629, rs1800110757, rs1800110798, rs1458793437, rs1800111486, rs61755813, rs1442844778, rs779414078, rs61755794, rs1242862941, rs1761921113, rs1409801782, rs1768346880, rs772549804, rs1768389030, rs1431427428, rs1770904723, rs1774743530, rs1766383947, rs909730457, rs1766404452, rs1767312015, rs1767601715, rs1245121527, rs1767699695, rs1295206142, rs548565748, rs1768657480, rs1765727233, rs1765728504, rs1766556883, rs746499646, rs1766006937, rs1766009155, rs1375767063, rs1459031771, rs779372264, rs986664547, rs1769692830, rs1769707298, rs1793956441, rs1798216037, rs1784156837, rs763759470, rs1797868307, rs749460193, rs371886218, rs1797910388, rs1806020324, rs1806033441, rs1806036718, rs1806037949, rs1488237523, rs1806043158, rs1230883512, rs1806057300, rs779290365, rs746396730, rs1806079331, rs373109791, rs1806160527, rs1822989898, rs202036979, rs141099767, rs1819778559, rs751600925, rs763785730, rs1819787095, rs754275640, rs1819797791, rs1821068883, rs776271026, rs1363491382, rs1042726781, rs1363359148, rs781881541, rs1861132418, rs1865149889, rs1866696630, rs754876029, rs1841315122, rs1841460358, rs1842189258, rs760608593, rs1842324166, rs1844615558, rs1844944116, rs2058399145, rs1403661741, rs746820022, rs1236291370, rs2058673701, rs2041025786, rs1243587288, rs1850697098, rs1850741468, rs1209208472, rs1382219910, rs980876322, rs762398929, rs1942208203, rs1856478505, rs1856787758, rs1856790811, rs775166854, rs2098614719, rs2098676296, rs2098677212, rs782639389, rs1953075862, rs1954927143, rs749747871, rs780609120, rs375135224, rs2033241849, rs2033937635, rs748471942, rs1345994179, rs2037229663, rs762633090, rs774490795, rs769102771, rs1882854195, rs1882945917, rs1883031542, rs1739469293, rs768178406, rs747257567, rs761167763, rs1163040913, rs2038196341, rs140257538, rs760813820, rs751589863, rs766173950, rs779740894, rs769845921, rs2034398158, rs2034427266, rs200047855, rs2074443699, rs1566947860, rs1489149705, rs955766374, rs2054237722, rs2065896039, rs766675673, rs561618945, rs762111572, rs2033706353, rs2034681207, rs2034747055, rs762817061, rs2035847573, rs2046158549, rs1451575280, rs756885471, rs1210263161, rs1960899756, rs1468272829, rs1157108621, rs1193604660, rs121434239, rs1911391944, rs773201535, rs1975949139, rs769818541, rs104894671, rs1968162133, rs1968165008, rs1968165080, rs1968169004, rs1968170098, rs2073701307, rs2073708846, rs2073709089, rs2073817463, rs2073817965, rs2073854068, rs2073855020, rs2073873693, rs2073875313, rs2073876392, rs2073926924, rs2073964314, rs1342475527, rs2073970078, rs2073970450, rs2074043162, rs2064852005, rs759131391, rs2067513100, rs775124094, rs890128759, rs2088652401, rs1300228825, rs2089115544, rs752395624, rs756223600, rs1925733148, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs2067114709, rs2067117239, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs1569235999, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169164, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067175855, rs2067176160, rs2067176379, rs1373833359, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs2067196140, rs2067201139, rs2067217398, rs2067217662, rs2067217874, rs2067218363, rs2067267431, rs2067277129, rs2067406342, rs2067449854, rs2067451355, rs62642057, rs2067700774, rs2067877357, rs2067878321, rs2067878443, rs2067976665, rs2067985696, rs2064376489, rs2064378728, rs1924521211, rs1924895234, rs1924896735, rs1924897230, rs1924901288, rs1924904407, rs1925035229, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs1244003380, rs1926202704, rs1926208067, rs1926208868, rs1929999634, rs1930006988, rs1930414140, rs1930421028, rs1930424797, rs1930435879, rs1930445401, rs1934694621, rs762837543, rs1927017073, rs1649583816, rs1292874452, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs1235430504, rs1371160062, rs1661818720, rs2031604509, rs1558244152, rs2034951427, rs2037617658, rs912980910, rs2037658254, rs756111113, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1677289241, rs1687854945, rs1005130980, rs1334444660, rs1560664459, rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25376789
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital coloboma of iris	Congenital coloboma of iris
Congenital exomphalos	Congenital exomphalos
Congenital malrotation of intestine	Congenital malrotation of intestine
Congenital omphalocele	Congenital omphalocele
Development disorder	Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific		17632512
Diaphragmatic eventration	Diaphragmatic Eventration
Eye diseases	Eye Diseases, Hereditary		17632512
Hyperuricemia	Hyperuricemia		29124443
Kidney failure	Kidney Failure, Acute, Kidney Failure, Chronic		29286200, 29124443
Metabolic bone disorder	Metabolic Bone Disorder		10052453
Non-acidotic proximal tubulopathy	Non-acidotic proximal tubulopathy
Osteopenia	Osteopenia		10052453
Partial agenesis of corpus callosum	Partial agenesis of corpus callosum
Posteriorly rotated ear	Posteriorly rotated ear
Prolactinoma	Prolactinoma
Proptosis	Exophthalmos
Prostatic neoplasms	Prostatic Neoplasms		22919386
Acute kidney insufficiency	Acute Kidney Insufficiency		29286200
Vitamin d deficiency	Vitamin D Deficiency		10052453