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KYNU (kynureninase)

Gene

8942

Kynureninase

KYNU

KYNUU, VCRL2

2q22.2

Kynureninase is a pyridoxal-5`-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NA

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs606231307	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs758865880	T>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs770642379	TTTAAGC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1135401744	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant

Show/Hide all(188)

miRTarBase ID	miRNA	Experiments	Reference
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	21572407
MIRT519029	hsa-miR-4494	HITS-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	21572407
MIRT519028	hsa-miR-361-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	21572407
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	23313552
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT616828	hsa-miR-603	HITS-CLIP	23313552
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT616826	hsa-miR-3941	HITS-CLIP	23313552
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT616828	hsa-miR-603	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616826	hsa-miR-3941	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT519029	hsa-miR-4494	PAR-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT519028	hsa-miR-361-5p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	23446348
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	23446348
MIRT519029	hsa-miR-4494	PAR-CLIP	23446348
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	23446348
MIRT519028	hsa-miR-361-5p	PAR-CLIP	23446348
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT616830	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT616830	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT616829	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT616829	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT616826	hsa-miR-3941	HITS-CLIP	27418678
MIRT616826	hsa-miR-3941	HITS-CLIP	27418678
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT616828	hsa-miR-603	HITS-CLIP	27418678
MIRT616828	hsa-miR-603	HITS-CLIP	27418678
MIRT616831	hsa-miR-8485	HITS-CLIP	27418678
MIRT616831	hsa-miR-8485	HITS-CLIP	27418678
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	21572407
MIRT519029	hsa-miR-4494	HITS-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	21572407
MIRT519028	hsa-miR-361-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	21572407
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT616831	hsa-miR-8485	HITS-CLIP	23313552
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT616828	hsa-miR-603	HITS-CLIP	23313552
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT616826	hsa-miR-3941	HITS-CLIP	23313552
MIRT695997	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT519031	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT519030	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT519029	hsa-miR-4494	HITS-CLIP	23824327
MIRT519027	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT519028	hsa-miR-361-5p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT616831	hsa-miR-8485	HITS-CLIP	23824327
MIRT616830	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT616829	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT616828	hsa-miR-603	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT616827	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT616826	hsa-miR-3941	HITS-CLIP	23824327
MIRT616825	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT616824	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT552019	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	21572407
MIRT519029	hsa-miR-4494	PAR-CLIP	21572407
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	21572407
MIRT519028	hsa-miR-361-5p	PAR-CLIP	21572407
MIRT519031	hsa-miR-3074-3p	PAR-CLIP	23446348
MIRT519030	hsa-miR-2115-3p	PAR-CLIP	23446348
MIRT519029	hsa-miR-4494	PAR-CLIP	23446348
MIRT519027	hsa-miR-499b-5p	PAR-CLIP	23446348
MIRT519028	hsa-miR-361-5p	PAR-CLIP	23446348
MIRT1102537	hsa-miR-141	CLIP-seq
MIRT1102538	hsa-miR-200a	CLIP-seq
MIRT1102539	hsa-miR-382	CLIP-seq
MIRT1102540	hsa-miR-4273	CLIP-seq
MIRT1102541	hsa-miR-4677-5p	CLIP-seq
MIRT1102542	hsa-miR-4720-3p	CLIP-seq
MIRT1102543	hsa-miR-4777-5p	CLIP-seq
MIRT1102544	hsa-miR-4804-3p	CLIP-seq
MIRT1102545	hsa-miR-518d-5p	CLIP-seq
MIRT1102546	hsa-miR-519b-5p	CLIP-seq
MIRT1102547	hsa-miR-519c-5p	CLIP-seq
MIRT1102548	hsa-miR-520c-5p	CLIP-seq
MIRT1102549	hsa-miR-526a	CLIP-seq
MIRT1102550	hsa-miR-570	CLIP-seq
MIRT1102551	hsa-miR-140-3p	CLIP-seq
MIRT1102552	hsa-miR-3607-3p	CLIP-seq
MIRT1102553	hsa-miR-3686	CLIP-seq
MIRT1102554	hsa-miR-4652-3p	CLIP-seq
MIRT1102555	hsa-miR-4724-5p	CLIP-seq
MIRT1102556	hsa-miR-4795-3p	CLIP-seq
MIRT1102557	hsa-miR-548ag	CLIP-seq
MIRT1102558	hsa-miR-548ai	CLIP-seq
MIRT1102559	hsa-miR-646	CLIP-seq
MIRT1102560	hsa-miR-656	CLIP-seq
MIRT2259248	hsa-miR-28-3p	CLIP-seq
MIRT2259249	hsa-miR-3065-5p	CLIP-seq
MIRT2259250	hsa-miR-4662a-5p	CLIP-seq
MIRT2259251	hsa-miR-548u	CLIP-seq
MIRT2259252	hsa-miR-576-3p	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	6468727
GO:0005829	Component	Cytosol	IDA	6468727
GO:0005829	Component	Cytosol	TAS
GO:0006569	Process	Tryptophan catabolic process	IMP	17334708
GO:0006569	Process	Tryptophan catabolic process	TAS
GO:0007568	Process	Aging	IEA
GO:0009435	Process	NAD biosynthetic process	IMP	28792876
GO:0019441	Process	Tryptophan catabolic process to kynurenine	IBA	21873635
GO:0019442	Process	Tryptophan catabolic process to acetyl-CoA	IEA
GO:0019805	Process	Quinolinate biosynthetic process	IDA	9291104
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030429	Function	Kynureninase activity	IBA	21873635
GO:0030429	Function	Kynureninase activity	IDA	9180257, 11985583
GO:0030429	Function	Kynureninase activity	IMP	17334708
GO:0034341	Process	Response to interferon-gamma	IDA	9291104
GO:0034354	Process	'de novo' NAD biosynthetic process from tryptophan	IEA
GO:0034516	Process	Response to vitamin B6	IMP	1939450
GO:0042803	Function	Protein homodimerization activity	IDA	11985583
GO:0043420	Process	Anthranilate metabolic process	IBA	21873635
GO:0043420	Process	Anthranilate metabolic process	IDA	11985583
GO:0061981	Function	3-hydroxykynureninase activity	IDA	28792876
GO:0097053	Process	L-kynurenine catabolic process	IEA

MIM	HGNC	e!Ensembl
605197	6469	ENSG00000115919

Protein

UniProt ID

Q16719

Protein name

Kynureninase (EC 3.7.1.3) (L-kynurenine hydrolase)

Protein function

Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyas

PDB

2HZP , 3E9K , 7S3V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	69 → 403	Aminotransferase class-V	Domain

Sequence

MEPSSLELPADTVQRIAAELKCHPTDERVALHLDEEDKLRHFRECFYIPKIQDLPPVDLS
LVNKDENAIYFLGNSLGLQPKMVKTYLEEELDKWAKIAAYGHEVGKRPWITGDESIVGLM
KDIVGANEKEIALMNALTVNLHLLMLSFFKPTPKRYKILLEAKAFPSDHYAIESQLQLHG
LNIEESMRMIKPREGEETLRIEDILEVIEKEGDSIAVILFSGVHFYTGQHFNIPAITKAG
QAKGCYVGFDLAHAVGNVELYLHDWGVDFACWCSYKYLNAGAGGIAGAFIHEKHAHTIKP
ALVGWFGHELSTRFKMDNKLQLIPGVCGFRISNPPILLVCSLHASLEIFKQATMKALRKK
SVLLTGYLEYLIKHNYGKDKAATKKPVVNIITPSHVEERGCQLTITFSVPNKDVFQELEK
RGVVCDKRNPNGIRVAPVPLYNSFHDVYKFTNLLTSILDSAETKN

Sequence length

465

Interactions

View interactions

	KEGG		Reactome
	Tryptophan metabolism Metabolic pathways Biosynthesis of cofactors		Tryptophan catabolism

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Congenital vertebral-cardiac-renal anomalies syndrome	Congenital vertebral-cardiac-renal anomalies syndrome, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	rs1135401744, rs758865880, rs770642379, rs1135401743, rs527656756, rs1232096291, rs144139747, rs1327307171, rs1949650831, rs1008561025, rs769220327	28792876
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
Encephalopathy	Nonprogressive encephalopathy	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1555202947, rs1555203557, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs563025075, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hydroxykynureninuria	Hydroxykynureninuria	rs606231307
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535	28792876
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	28792876
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	28792876
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872	28792876

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal spinal segmentation	Defect of vertebral segmentation		28792876
Congenital clubfoot	Congenital clubfoot		28792876
Congenital malformation syndrome	Congenital malformation syndrome		28792876
Congenital sensorineural hearing loss	Congenital sensorineural hearing loss
Degenerative diseases, central nervous system	Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord		16365156
Frontal bossing	Frontal bossing		28792876
Neurodegenerative disorders	Neurodegenerative Disorders		16365156
Renal aplasia	Unilateral agenesis of kidney		28792876
Renal hypoplasia	Congenital hypoplasia of kidney	rs561111097	28792876
Renal tubular disorder	Renal tubular disorder
Rhizomelia	Rhizomelia
Stereotyped behavior	Stereotyped Behavior
Stomatitis	Stomatitis
Syndactyly of the toes	2-3 toe syndactyly		28792876
Talipes	Talipes
Thoracic hemivertebra	Thoracic hemivertebra		28792876

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ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412