CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

Gene

• Entrez ID: 1591
• Gene name: Cytochrome P450 family 24 subfamily A member 1
• Gene symbol: CYP24A1
• Synonyms (NCBI Gene): CP24, CYP24, HCAI, HCINF1, P450-CC24
• Disease Acronyms (UniProt): HCINF1
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6068812	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs35051736	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs35873579	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs114368325	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs139763321	A>G	Pathogenic	Coding sequence variant, missense variant
rs387907322	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs387907323	C>A	Pathogenic	Coding sequence variant, stop gained
rs387907324	C>T	Pathogenic	Coding sequence variant, missense variant
rs774432244	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs777676129	CTT>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs777947329	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs781367354	C>A,T	Likely-pathogenic	Missense variant, initiator codon variant
rs876657376	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004408	hsa-miR-125b-5p	qRT-PCR, Luciferase reporter assay, Western blot, Northern blot	19570947
MIRT004408	hsa-miR-125b-5p	Review	20026422
MIRT004408	hsa-miR-125b-5p	Reporter assay	19570947
MIRT024646	hsa-miR-215-5p	Microarray	19074876
MIRT026473	hsa-miR-192-5p	Microarray	19074876
MIRT029534	hsa-miR-26b-5p	Microarray	19088304
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT638072	hsa-miR-636	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT638071	hsa-miR-3977	HITS-CLIP	23824327
MIRT638070	hsa-miR-218-5p	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT638072	hsa-miR-636	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT638071	hsa-miR-3977	HITS-CLIP	23824327
MIRT638070	hsa-miR-218-5p	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT633075	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT633074	hsa-miR-5008-3p	HITS-CLIP	23824327
MIRT633073	hsa-miR-6737-3p	HITS-CLIP	23824327
MIRT633072	hsa-miR-7157-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT630104	hsa-miR-654-3p	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT614643	hsa-miR-8485	HITS-CLIP	23824327
MIRT614642	hsa-miR-4643	HITS-CLIP	23824327
MIRT614641	hsa-miR-4666b	HITS-CLIP	23824327
MIRT755562	miR-21	qRT-PCR	35807864
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT921011	hsa-miR-125a-3p	CLIP-seq
MIRT921012	hsa-miR-1827	CLIP-seq
MIRT921013	hsa-miR-218	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT921016	hsa-miR-30a	CLIP-seq
MIRT921017	hsa-miR-30b	CLIP-seq
MIRT921018	hsa-miR-30c	CLIP-seq
MIRT921019	hsa-miR-30d	CLIP-seq
MIRT921020	hsa-miR-30e	CLIP-seq
MIRT921021	hsa-miR-3189-5p	CLIP-seq
MIRT921022	hsa-miR-3616-5p	CLIP-seq
MIRT921023	hsa-miR-3647-5p	CLIP-seq
MIRT921024	hsa-miR-365	CLIP-seq
MIRT921025	hsa-miR-3907	CLIP-seq
MIRT921026	hsa-miR-3909	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921028	hsa-miR-3974	CLIP-seq
MIRT921029	hsa-miR-4477b	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921033	hsa-miR-4652-3p	CLIP-seq
MIRT921034	hsa-miR-4729	CLIP-seq
MIRT921035	hsa-miR-4731-3p	CLIP-seq
MIRT921036	hsa-miR-4758-3p	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921038	hsa-miR-4795-5p	CLIP-seq
MIRT921039	hsa-miR-4801	CLIP-seq
MIRT921040	hsa-miR-495	CLIP-seq
MIRT921041	hsa-miR-501-3p	CLIP-seq
MIRT921042	hsa-miR-502-3p	CLIP-seq
MIRT921043	hsa-miR-552	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921045	hsa-miR-573	CLIP-seq
MIRT921046	hsa-miR-586	CLIP-seq
MIRT921047	hsa-miR-590-3p	CLIP-seq
MIRT921048	hsa-miR-628-5p	CLIP-seq
MIRT921049	hsa-miR-642b	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT921051	hsa-miR-1202	CLIP-seq
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT921052	hsa-miR-204	CLIP-seq
MIRT921053	hsa-miR-211	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT921021	hsa-miR-3189-5p	CLIP-seq
MIRT921054	hsa-miR-3194-5p	CLIP-seq
MIRT921055	hsa-miR-34b	CLIP-seq
MIRT921056	hsa-miR-34c-3p	CLIP-seq
MIRT921024	hsa-miR-365	CLIP-seq
MIRT921026	hsa-miR-3909	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921057	hsa-miR-3972	CLIP-seq
MIRT921028	hsa-miR-3974	CLIP-seq
MIRT921058	hsa-miR-4287	CLIP-seq
MIRT921029	hsa-miR-4477b	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921059	hsa-miR-4685-3p	CLIP-seq
MIRT921036	hsa-miR-4758-3p	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921040	hsa-miR-495	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921047	hsa-miR-590-3p	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT921010	hsa-miR-1207-5p	CLIP-seq
MIRT1972904	hsa-miR-199a-3p	CLIP-seq
MIRT1972905	hsa-miR-199b-3p	CLIP-seq
MIRT921014	hsa-miR-2682	CLIP-seq
MIRT921015	hsa-miR-2861	CLIP-seq
MIRT1972906	hsa-miR-3129-5p	CLIP-seq
MIRT921027	hsa-miR-3918	CLIP-seq
MIRT921030	hsa-miR-449c	CLIP-seq
MIRT921031	hsa-miR-4512	CLIP-seq
MIRT921032	hsa-miR-4536	CLIP-seq
MIRT921037	hsa-miR-4763-3p	CLIP-seq
MIRT921044	hsa-miR-553	CLIP-seq
MIRT921050	hsa-miR-940	CLIP-seq
MIRT2208540	hsa-miR-4789-3p	CLIP-seq
MIRT2208541	hsa-miR-602	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
VDR	Activation	23463632
VDR	Repression	9687155
VDR	Unknown	19244278;19429444;21763285

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEP	17023519
GO:0005506	Function	Iron ion binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0008403	Function	25-hydroxycholecalciferol-24-hydroxylase activity	IBA	21873635
GO:0008403	Function	25-hydroxycholecalciferol-24-hydroxylase activity	IDA	8679605, 24893882
GO:0010430	Process	Fatty acid omega-oxidation	IBA	21873635
GO:0016491	Function	Oxidoreductase activity	NAS	7632726
GO:0020037	Function	Heme binding	TAS	8506296
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IBA	21873635
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IDA	8506296, 8679605, 16617161, 24893882
GO:0030342	Function	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	TAS
GO:0033280	Process	Response to vitamin D	IBA	21873635
GO:0033280	Process	Response to vitamin D	IDA	16720713
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042369	Process	Vitamin D catabolic process	IBA	21873635
GO:0042369	Process	Vitamin D catabolic process	IDA	8679605, 16617161, 24893882
GO:0042369	Process	Vitamin D catabolic process	NAS	16720713
GO:0062180	Function	25-hydroxycholecalciferol-23-hydroxylase activity	IDA	8679605, 11012668, 24893882
GO:0062181	Function	1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IDA	16617161, 24893882
GO:0070561	Process	Vitamin D receptor signaling pathway	NAS	16720713
GO:0070643	Function	Vitamin D 25-hydroxylase activity	IBA	21873635
GO:0070643	Function	Vitamin D 25-hydroxylase activity	IDA	25727742

Other IDs

• MIM: 126065
• HGNC: 2602
• e!Ensembl: ENSG00000019186

Protein

• UniProt ID: Q07973
• Protein name: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (24-OHase) (Vitamin D(3) 24-hydroxylase) (EC 1.14.15.16) (Cytochrome P450 24A1) (Cytochrome P450-CC24)
• Protein function: A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active ho
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	58 → 512	Cytochrome P450	Domain

• Sequence:

  MSSPISKSRSLAAFLQQLRSPRQPPRLVTSTAYTSPQPREVPVCPLTAGGETQNAAALPG
  PTSWPLLGSLLQILWKGGLKKQHDTLVEYHKKYGKIFRMKLGSFESVHLGSPCLLEALYR
  TESAYPQRLEIKPWKAYRDYRKEGYGLLILEGEDWQRVRSAFQKKLMKPGEVMKLDNKIN
  EVLADFMGRIDELCDERGHVEDLYSELNKWSFESICLVLYEKRFGLLQKNAGDEAVNFIM
  AIKTMMSTFGRMMVTPVELHKSLNTKVWQDHTLAWDTIFKSVKACIDNRLEKYSQQPSAD
  FLCDIYHQNRLSKKELYAAVTELQLAAVETTANSLMWILYNLSRNPQVQQKLLKEIQSVL
  PENQVPRAEDLRNMPYLKACLKESMRLTPSVPFTTRTLDKATVLGEYALPKGTVLMLNTQ
  VLGSSEDNFEDSSQFRPERWLQEKEKINPFAHLPFGVGKRMCIGRRLAELQLHLALCWIV
  RKYDIQATDNEPVEMLHSGTLVPSRELPIAFCQR

• Sequence length: 514

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways
Parathyroid hormone synthesis, secretion and action
MicroRNAs in cancer

Reactome:

Vitamin D (calciferol) metabolism
Vitamins
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	16280049
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	16280049
Hypercalcemia	Hypercalcemia, Hypercalcemia, Idiopathic, of Infancy, Hypercalcemia, Infantile, 1, Hypercalcemia, infantile, 2, Autosomal recessive infantile hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354	22337913, 21675912, 29903433, 23293122, 26304832, 26214117, 26787776, 24423361, 23470222, 27394135, 24875559, 22047572, 22112808, 26097993, 24518185, 23001465, 23485543, 26117226, 25446019, 25194629, 28109821
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	22797725
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	16280049
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
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	22337913
Renal insufficiency	Renal Insufficiency	rs1596536873	8164439

Unknown
Disease term	Disease name	Evidence	References	Source
Eczema	Eczema			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Dermatitis	Dermatitis			GWAS
Urolithiasis	Urolithiasis			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Associate	38195505
Adenocarcinoma	Associate	19901270, 24736069, 25090635
Adenocarcinoma of Lung	Associate	21169243, 24736069, 32165494, 32998690, 34323652, 35664356
Adenoma	Stimulate	22511602
Adenoma	Associate	26241700
Adenomyosis	Associate	38195505
Arthritis Rheumatoid	Associate	34925313
Asthma	Associate	16600026, 19852851, 21613960, 36839181
Bone Diseases	Associate	22337913
Breast Neoplasms	Associate	14760115, 15863722, 16280049, 19667160, 20440542, 22480149, 22649517, 23393347, 25421379, 25736056, 31548577, 34003583
Breast Neoplasms	Stimulate	24416388
Calcinosis	Associate	33219692
Calcium Metabolism Disorders	Associate	25165186
Carcinogenesis	Associate	19901270, 23423976, 23674869, 28821819
Carcinoma Basal Cell	Associate	15077124, 34003583
Carcinoma Hepatocellular	Associate	20345479
Carcinoma Non Small Cell Lung	Associate	25544771, 27669215, 34836039
Carcinoma Non Small Cell Lung	Inhibit	27669215
Carcinoma Pancreatic Ductal	Associate	25090635
Carcinoma Squamous Cell	Associate	28211524
Cardiovascular Diseases	Associate	33219692
Cerebral Infarction	Associate	31872978
Chronic Kidney Disease Mineral and Bone Disorder	Associate	33211721
Colitis Ulcerative	Associate	28811712
Colonic Polyps	Associate	28811712
Colorectal Neoplasms	Associate	19706847, 21084270, 22940288, 23423976, 23463632, 23674869, 24562971, 28009432, 28665452, 28811712, 28821819, 31963716, 34191826, 37414755
Colorectal Neoplasms	Stimulate	37750623
Coronary Disease	Associate	32762692
COVID 19	Associate	36833234
Dermatitis Atopic	Associate	26315479
Diabetes Mellitus Type 1	Associate	32764491
Diabetes Mellitus Type 2	Associate	29358755, 32542627
Disease	Associate	25165186
Drug Hypersensitivity	Associate	26489816
Endometrial Neoplasms	Associate	24732451, 27769055
Esophageal Neoplasms	Associate	14760115
Essential Hypertension	Associate	31102703
Fetal Death	Associate	34662328
Gastrointestinal Hemorrhage	Associate	35114859
Hemolytic Uremic Syndrome	Inhibit	23965431
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16886688
HIV Infections	Associate	23877860
Hypercalcemia	Associate	11909970, 22112808, 22337913, 25375986, 26097993, 27105398, 28324001, 28470390, 28874334, 31288237, 33856702, 34662328, 34721296, 35282483, 36625425, 37358380
Hypercalcemia Infantile	Associate	22112808, 28304097, 28324001, 28470390, 28874334, 33864587, 34125233, 34217267, 34721296, 35282483, 36625425, 40428323
Hypercalciuria	Associate	22337913, 23293122, 28324001, 28470390, 31288237, 34125233, 34721296, 35282483, 36625425
Hyperostosis corticalis deformans juvenilis	Associate	10703924
Hypertension	Associate	31872978, 31918428
Hypertension Pregnancy Induced	Associate	35684156
Hypophosphatemia	Associate	34721296
Ige Responsiveness Atopic	Associate	19852851
Immunologic Deficiency Syndromes	Inhibit	27105398
Immunologic Deficiency Syndromes	Associate	27105398
Inflammation	Associate	24416388
Intestinal Atresia	Associate	24367646
Kidney Calculi	Associate	23293122, 31288237, 36625425, 40372791, 40759569
Kidney Diseases	Associate	34721296
Kidney Failure Chronic	Associate	27605961, 33099630
Laryngeal Neoplasms	Associate	38567579
Leukemia	Associate	35563410
Lithiasis	Associate	34721296
Lung Neoplasms	Associate	22386975, 22797725, 25415319, 25519225, 29726119, 31264381
Lung Neoplasms	Stimulate	32165494
Lupus Erythematosus Systemic	Associate	27283331
Lymphatic Metastasis	Inhibit	22511602
Lymphoma	Associate	35563410
Lymphoma Large B Cell Diffuse	Associate	31638226
Lymphoma Non Hodgkin	Associate	22544453
Melanoma	Associate	17172823, 22576141, 25334067, 30200275, 31235702, 39456696
Metabolism Inborn Errors	Inhibit	34662328
Multiple Sclerosis	Associate	25526461, 34163021, 34855907, 36823318
Necrosis	Associate	25334067
Neoplasm Metastasis	Associate	22511602
Neoplasms	Associate	16886688, 17591932, 20304059, 20831823, 21169243, 21725204, 22386975, 23463632, 23674869, 24416388, 24732451, 24736069, 25334067, 25544771, 26241700, 27769055, 28811712, 32165494, 34191826, 36672957, 37750623, 38567579, 40362248
Neoplasms	Stimulate	25090635
Nephrocalcinosis	Associate	23293122, 27105398, 31288237, 34721296, 35282483, 36625425
Nephrolithiasis	Associate	22337913, 23293122, 25375986, 27105398, 31288237, 35282483
Nevus Pigmented	Associate	25334067
Pancreatic Neoplasms	Associate	23826131, 25799011
Pancreatic Neoplasms	Stimulate	23826131
Pancreatitis	Associate	27105398
Pediatric Obesity	Associate	28874334
Premature Ejaculation	Associate	36226342
Prostate Cancer Hereditary 7	Inhibit	23377224
Prostatic Diseases	Inhibit	20587525
Prostatic Neoplasms	Associate	19667147, 20687218
Prostatic Neoplasms	Inhibit	20587525
Prostatitis	Associate	12899539, 21725204
Renal Insufficiency Chronic	Associate	30286109, 35282483
Sick Sinus Syndrome	Stimulate	31638226
Skin Neoplasms	Associate	28211524
Small Cell Lung Carcinoma	Associate	25415319
Spinal Muscular Atrophies of Childhood	Associate	19706847
Stroke	Associate	31872978
Thyroid Cancer Papillary	Inhibit	22511602
Thyroid Cancer Papillary	Associate	22690899
Thyroid Carcinoma Anaplastic	Associate	22511602
Thyroid Neoplasms	Associate	20860424, 22690899
Thyroid Neoplasms	Stimulate	22511602
Urologic Diseases	Associate	31235702
Uveal melanoma	Associate	31235702
Uveomeningoencephalitic Syndrome	Associate	27716192
Vascular Calcification	Associate	33219692
Ventricular Fibrillation	Associate	30142216
Vitamin D Deficiency	Associate	23877860, 27283331, 27669215, 28470390, 29358755, 30286109, 34662328, 35684156
Vitamin D Hydroxylation Deficient Rickets Type 1A	Associate	23293122
Williams Syndrome	Associate	33856702