EVC2 (EvC ciliary complex subunit 2)

Gene

• Entrez ID: 132884
• Gene name: EvC ciliary complex subunit 2
• Gene symbol: EVC2
• Synonyms (NCBI Gene): LBN, WAD
• Disease Acronyms (UniProt): WAD
• Chromosome: 4
• Chromosome location: 4p16.2
• Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35103377	AA>-,A,AAA,AAAA,AAAAA	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs73198165	G>A,T	Benign-likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs137852924	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs137852925	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs137852926	A>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs137852927	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs139129327	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs139936564	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs143388379	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs144167138	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs145425340	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs145693546	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146538906	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs146588335	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs150367317	C>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs150691722	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs200300612	A>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs201083070	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs202191109	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs367655073	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs376133710	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs544397395	G>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs548681312	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs556910528	G>A	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs557830930	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs587776568	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs730882232	->GCATTCAAAAAGTTCTTCTTTTTC	Likely-pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs748820015	G>C,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs749251178	C>A,G	Likely-pathogenic	Splice acceptor variant
rs750396637	CCCGGGC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs751356206	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs753581033	G>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755789146	GCCGTGGTGCGGCAGAACCTGTGGAG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs756424912	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs760066386	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs760382778	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs761707323	C>A	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs762947212	C>A,G,T	Likely-pathogenic	Splice donor variant
rs763363403	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs767072839	T>A,C	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs769799880	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs769864196	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs770918273	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs771435248	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs772840335	TT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs774416029	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs777505711	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs778793911	AGCAGGGCCAGCAGCTGAG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs779857359	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs781009014	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs781096099	A>C,G	Likely-pathogenic	Splice donor variant
rs781623802	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886037763	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886037764	C>A,T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs886044525	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant
rs965707319	G>A,T	Likely-pathogenic	5 prime UTR variant, synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs981099037	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs992326794	->CCCCG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1159758018	TCCC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1214848359	C>A	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1221185345	GATCCCGGGG>-	Pathogenic, likely-pathogenic	Frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs1236566474	G>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1265421045	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1294715119	A>G	Likely-pathogenic	Splice donor variant
rs1302074641	T>C,G	Pathogenic	Splice acceptor variant
rs1305301849	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1307502841	C>T	Likely-pathogenic	Splice donor variant
rs1420414097	CTCCGCCCCG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1430962566	->A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1431987950	TCTGCTTGATTGAAA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, inframe indel
rs1447633595	C>A,G,T	Likely-pathogenic	Splice donor variant
rs1477102573	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, intron variant
rs1490912913	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1553811863	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553812417	G>TC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1553815019	C>T	Likely-pathogenic, pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1553818428	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1553833239	T>C	Likely-pathogenic	Splice acceptor variant
rs1553836165	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553836169	C>T	Likely-pathogenic	Splice acceptor variant
rs1553837446	C>G	Likely-pathogenic	Splice acceptor variant
rs1553840713	CC>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553846613	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553849875	->G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1553849894	T>C	Likely-pathogenic	Splice acceptor variant
rs1553850677	C>A	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1553851462	->A	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1553851870	T>C	Likely-pathogenic	Splice acceptor variant
rs1553852469	C>-	Likely-pathogenic	5 prime UTR variant, splice donor variant, coding sequence variant, non coding transcript variant
rs1553855074	->CCCGCCCCGC	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1553855127	->GGGGCGCCAGCGGGGACGTGAG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant
rs1553855151	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, intron variant, upstream transcript variant, frameshift variant
rs1560121645	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1577093161	A>C,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1577093203	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577093258	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577095782	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577170055	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT646805	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT646804	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT646803	hsa-miR-1245b-3p	HITS-CLIP	23824327
MIRT646802	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT646801	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT646800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646799	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646798	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT646797	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646796	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT646795	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT646793	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT646794	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT646792	hsa-miR-5100	HITS-CLIP	23824327
MIRT646791	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT646790	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT646789	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT646788	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT646805	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT646804	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT646803	hsa-miR-1245b-3p	HITS-CLIP	23824327
MIRT646802	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT646801	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT646800	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646799	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT646798	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT646797	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646796	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT646795	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT646793	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT646794	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT646792	hsa-miR-5100	HITS-CLIP	23824327
MIRT646791	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT646790	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT646789	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT646788	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT972141	hsa-miR-1909	CLIP-seq
MIRT972142	hsa-miR-3691-5p	CLIP-seq
MIRT972143	hsa-miR-3911	CLIP-seq
MIRT972144	hsa-miR-4447	CLIP-seq
MIRT972145	hsa-miR-4472	CLIP-seq
MIRT972146	hsa-miR-4752	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	ISS
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0060170	Component	Ciliary membrane	IBA	21873635
GO:0060170	Component	Ciliary membrane	TAS
GO:0098797	Component	Plasma membrane protein complex	IBA	21873635

Other IDs

• MIM: 607261
• HGNC: 19747
• e!Ensembl: ENSG00000173040

Protein

• UniProt ID: Q86UK5
• Protein name: Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)
• Protein function: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12297	EVC2_like	237 → 660	Ellis van Creveld protein 2 like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:12468274}.
• Sequence:

  MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGL
  RIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASS
  GPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEA
  QTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAF
  AVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAA
  GFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSL
  NDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHL
  SPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEA
  EELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSI
  FFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQ
  NLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDL
  KQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGAT
  LEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEH
  GKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSV
  FSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPE
  LQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQE
  GGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRE
  LQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSK
  SQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLR
  RLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLR
  GDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGA
  ETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD

• Sequence length: 1308

Pathways

KEGG:

Hedgehog signaling pathway

Reactome:

Hedgehog 'on' state
Activation of SMO

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Acrofacial dysostosis	Acrofacial dysostosis, Weyers type	rs794729674, rs875989814, rs1064795108, rs1377622831
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Ellis-van creveld syndrome	Ellis Van Creveld syndrome, Ellis-Van Creveld Syndrome	rs1265421045, rs137852924, rs137852925, rs137852926, rs137852927, rs794726665, rs121908424, rs121908425, rs587776619, rs121908426, rs794726666, rs1302074641, rs146538906, rs751356206, rs886037764, rs886037763, rs548681312, rs200300612, rs150814290, rs146475474, rs965707319, rs767913372, rs1553815019, rs376133710, rs769864196, rs761707323, rs748523193, rs755381180, rs765269619, rs1553891936, rs759106605, rs1017946059, rs1553876034, rs1553812417, rs1424976594, rs1553865346, rs1553876870, rs753581033, rs760066386, rs1553833239, rs767072839, rs777505711, rs1553849894, rs1553855074, rs1553855151, rs1485152854, rs1553871764, rs1553871866, rs527255616, rs1553873138, rs760607210, rs1169539647, rs770918273, rs762947212, rs1553837446, rs1553811863, rs1307502841, rs1553851870, rs781096099, rs1553818428, rs1447633595, rs749251178, rs769799880, rs992326794, rs1431987950, rs1553836169, rs772840335, rs1553867117, rs1553873969, rs909612975, rs1262933856, rs755789146, rs1553889992, rs773019082, rs1553892090, rs1305301849, rs1553850677, rs1553895755, rs778793911, rs1553851462, rs760382778, rs1007534611, rs73198165, rs1553855127, rs1490912913, rs1430962566, rs1553857801, rs1159758018, rs1553840713, rs763363403, rs1553857995, rs1294715119, rs1553871792, rs1236566474, rs1553852469, rs1214848359, rs1420414097, rs1221185345, rs1300178432, rs1477102573, rs1553876813, rs764397417, rs1553857828, rs1553891368, rs1363547577, rs1553867138, rs779915989, rs1553886849, rs753014919, rs779275317, rs1553894457, rs1553895776, rs1437174284, rs777852863, rs762795511, rs1577638781, rs1722451930, rs758841632, rs767400887	12468274, 12571802, 26580685, 19876929, 21199751, 23220543, 22190900, 27280866, 17024374, 26818569, 19251731, 22791528, 26748586, 22406498, 19810119, 23026208, 25525159, 28081373, 21815252, 16404586, 26219237
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094
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
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	31220337
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Beemer type	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Associations from Text Mining
Disease Name	Relationship Type	References
Amelogenesis imperfecta local hypoplastic form	Associate	36672825
Anodontia	Associate	36672825
Capillary Malformation Arteriovenous Malformation	Associate	36672825
Ciliopathies	Associate	33875766
Cleft Lip	Associate	28230599
Cleft Palate	Associate	20087401
Coxa Valga	Associate	36672825
Developmental Dysplasia of the Hip	Associate	36454308
Ellis Van Creveld Syndrome	Associate	17392984, 20184732, 21199751, 23276573, 25908617, 29229899, 36672825, 36932784, 37107645, 37684519, 38531627
Genetic Diseases Inborn	Associate	37107645
Heart Diseases	Associate	17392984
Hydrolethalus syndrome	Associate	23276573
Hydronephrosis	Associate	36672825
Malocclusion Angle Class III	Associate	20844756
Meckel syndrome type 1	Associate	23169490
Multicystic renal dysplasia bilateral	Associate	36672825
Myopia	Associate	36672825
Neointima	Associate	36672825
Neoplasm Metastasis	Associate	32657779
Obesity	Associate	36672825
Polydactyly	Associate	36672825
Polydactyly Postaxial	Associate	17392984, 23276573, 37684519
Pyometra	Associate	36672825
Stomach Neoplasms	Associate	36981021
Taurodontism	Associate	36672825
Tetralogy of Fallot	Associate	24479926
Vaginitis	Associate	36672825
Weyers acrofacial dysostosis	Associate	38531627