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VPS33B (VPS33B late endosome and lysosome associated)

Gene

26276

VPS33B late endosome and lysosome associated

VPS33B

KDIDAR, PFIC12

15q26.1

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol

Show/Hide all(28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11542638	G>A,T	Pathogenic, likely-benign, benign	5 prime UTR variant, coding sequence variant, stop gained, synonymous variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs121434383	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121434384	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs139655526	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs139709507	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs142964161	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs145092724	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs145303578	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs201431055	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201436915	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs372769808	C>T	Pathogenic	Intron variant, genic upstream transcript variant
rs375376103	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398122407	C>G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Intron variant
rs398122408	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs751858602	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs774529051	T>C	Pathogenic	Splice acceptor variant
rs774653538	C>A,T	Pathogenic	Splice donor variant
rs780626848	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs794726658	C>T	Pathogenic	Splice donor variant
rs886043445	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs997425993	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs1064793614	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1416595652	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1442840881	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555458189	C>T	Pathogenic	Splice donor variant
rs1555459218	C>G	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1596348299	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1596358564	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all(139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT726128	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726127	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726126	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726125	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1486520	hsa-miR-103a	CLIP-seq
MIRT1486521	hsa-miR-107	CLIP-seq
MIRT1486522	hsa-miR-1236	CLIP-seq
MIRT1486523	hsa-miR-15a	CLIP-seq
MIRT1486524	hsa-miR-15b	CLIP-seq
MIRT1486525	hsa-miR-16	CLIP-seq
MIRT1486526	hsa-miR-195	CLIP-seq
MIRT1486527	hsa-miR-3074-5p	CLIP-seq
MIRT1486528	hsa-miR-3613-5p	CLIP-seq
MIRT1486529	hsa-miR-370	CLIP-seq
MIRT1486530	hsa-miR-3940-5p	CLIP-seq
MIRT1486531	hsa-miR-424	CLIP-seq
MIRT1486532	hsa-miR-4507	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT1486534	hsa-miR-497	CLIP-seq
MIRT1486535	hsa-miR-503	CLIP-seq
MIRT1486536	hsa-miR-646	CLIP-seq
MIRT1486523	hsa-miR-15a	CLIP-seq
MIRT1486524	hsa-miR-15b	CLIP-seq
MIRT1486525	hsa-miR-16	CLIP-seq
MIRT1486526	hsa-miR-195	CLIP-seq
MIRT2146307	hsa-miR-2117	CLIP-seq
MIRT2146308	hsa-miR-2278	CLIP-seq
MIRT2146309	hsa-miR-2467-3p	CLIP-seq
MIRT2146310	hsa-miR-3188	CLIP-seq
MIRT2146311	hsa-miR-3200-5p	CLIP-seq
MIRT2146312	hsa-miR-409-3p	CLIP-seq
MIRT1486531	hsa-miR-424	CLIP-seq
MIRT2146313	hsa-miR-4251	CLIP-seq
MIRT2146314	hsa-miR-4273	CLIP-seq
MIRT2146315	hsa-miR-4329	CLIP-seq
MIRT2146316	hsa-miR-4468	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT2146317	hsa-miR-4684-5p	CLIP-seq
MIRT2146318	hsa-miR-4699-3p	CLIP-seq
MIRT1486534	hsa-miR-497	CLIP-seq
MIRT1486536	hsa-miR-646	CLIP-seq
MIRT1486520	hsa-miR-103a	CLIP-seq
MIRT1486521	hsa-miR-107	CLIP-seq
MIRT1486523	hsa-miR-15a	CLIP-seq
MIRT1486524	hsa-miR-15b	CLIP-seq
MIRT1486525	hsa-miR-16	CLIP-seq
MIRT2366782	hsa-miR-181a	CLIP-seq
MIRT2366783	hsa-miR-181b	CLIP-seq
MIRT2366784	hsa-miR-181c	CLIP-seq
MIRT2366785	hsa-miR-181d	CLIP-seq
MIRT1486526	hsa-miR-195	CLIP-seq
MIRT1486528	hsa-miR-3613-5p	CLIP-seq
MIRT1486530	hsa-miR-3940-5p	CLIP-seq
MIRT1486531	hsa-miR-424	CLIP-seq
MIRT2366786	hsa-miR-4262	CLIP-seq
MIRT1486532	hsa-miR-4507	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT2146318	hsa-miR-4699-3p	CLIP-seq
MIRT1486534	hsa-miR-497	CLIP-seq
MIRT1486535	hsa-miR-503	CLIP-seq
MIRT1486536	hsa-miR-646	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT2660423	hsa-miR-1	CLIP-seq
MIRT1486520	hsa-miR-103a	CLIP-seq
MIRT1486521	hsa-miR-107	CLIP-seq
MIRT1486522	hsa-miR-1236	CLIP-seq
MIRT2660424	hsa-miR-141	CLIP-seq
MIRT1486523	hsa-miR-15a	CLIP-seq
MIRT1486524	hsa-miR-15b	CLIP-seq
MIRT1486525	hsa-miR-16	CLIP-seq
MIRT2366782	hsa-miR-181a	CLIP-seq
MIRT2366783	hsa-miR-181b	CLIP-seq
MIRT2366784	hsa-miR-181c	CLIP-seq
MIRT2366785	hsa-miR-181d	CLIP-seq
MIRT2660425	hsa-miR-193a-3p	CLIP-seq
MIRT2660426	hsa-miR-193b	CLIP-seq
MIRT1486526	hsa-miR-195	CLIP-seq
MIRT2660427	hsa-miR-200a	CLIP-seq
MIRT2660428	hsa-miR-206	CLIP-seq
MIRT1486527	hsa-miR-3074-5p	CLIP-seq
MIRT2660429	hsa-miR-3127-5p	CLIP-seq
MIRT1486529	hsa-miR-370	CLIP-seq
MIRT1486531	hsa-miR-424	CLIP-seq
MIRT2366786	hsa-miR-4262	CLIP-seq
MIRT2660430	hsa-miR-4270	CLIP-seq
MIRT2660431	hsa-miR-4441	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT2660432	hsa-miR-4668-5p	CLIP-seq
MIRT2660433	hsa-miR-4743	CLIP-seq
MIRT2660434	hsa-miR-4766-3p	CLIP-seq
MIRT1486534	hsa-miR-497	CLIP-seq
MIRT1486535	hsa-miR-503	CLIP-seq
MIRT2660435	hsa-miR-505	CLIP-seq
MIRT2660436	hsa-miR-548p	CLIP-seq
MIRT2660437	hsa-miR-613	CLIP-seq
MIRT1486536	hsa-miR-646	CLIP-seq
MIRT2660423	hsa-miR-1	CLIP-seq
MIRT1486520	hsa-miR-103a	CLIP-seq
MIRT1486521	hsa-miR-107	CLIP-seq
MIRT1486522	hsa-miR-1236	CLIP-seq
MIRT2695064	hsa-miR-1343	CLIP-seq
MIRT2660424	hsa-miR-141	CLIP-seq
MIRT1486523	hsa-miR-15a	CLIP-seq
MIRT1486524	hsa-miR-15b	CLIP-seq
MIRT1486525	hsa-miR-16	CLIP-seq
MIRT2366782	hsa-miR-181a	CLIP-seq
MIRT2366783	hsa-miR-181b	CLIP-seq
MIRT2366784	hsa-miR-181c	CLIP-seq
MIRT2366785	hsa-miR-181d	CLIP-seq
MIRT2660425	hsa-miR-193a-3p	CLIP-seq
MIRT2660426	hsa-miR-193b	CLIP-seq
MIRT1486526	hsa-miR-195	CLIP-seq
MIRT2660427	hsa-miR-200a	CLIP-seq
MIRT2660428	hsa-miR-206	CLIP-seq
MIRT1486527	hsa-miR-3074-5p	CLIP-seq
MIRT2660429	hsa-miR-3127-5p	CLIP-seq
MIRT2695065	hsa-miR-3192	CLIP-seq
MIRT1486528	hsa-miR-3613-5p	CLIP-seq
MIRT1486529	hsa-miR-370	CLIP-seq
MIRT1486530	hsa-miR-3940-5p	CLIP-seq
MIRT1486531	hsa-miR-424	CLIP-seq
MIRT2366786	hsa-miR-4262	CLIP-seq
MIRT2660430	hsa-miR-4270	CLIP-seq
MIRT2695066	hsa-miR-4300	CLIP-seq
MIRT2695067	hsa-miR-4311	CLIP-seq
MIRT2660431	hsa-miR-4441	CLIP-seq
MIRT1486532	hsa-miR-4507	CLIP-seq
MIRT1486533	hsa-miR-4524	CLIP-seq
MIRT2660432	hsa-miR-4668-5p	CLIP-seq
MIRT2660433	hsa-miR-4743	CLIP-seq
MIRT2660434	hsa-miR-4766-3p	CLIP-seq
MIRT1486534	hsa-miR-497	CLIP-seq
MIRT1486535	hsa-miR-503	CLIP-seq
MIRT2660435	hsa-miR-505	CLIP-seq
MIRT2695068	hsa-miR-539	CLIP-seq
MIRT2660436	hsa-miR-548p	CLIP-seq
MIRT2660437	hsa-miR-613	CLIP-seq
MIRT1486536	hsa-miR-646	CLIP-seq
MIRT2695069	hsa-miR-920	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 18474358, 19109425, 20190753, 22677173, 23901104, 23918659, 25416956, 25783203, 26871637, 28017832, 32296183
GO:0005737	Component	Cytoplasm	IDA	15052268, 20190753
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	15052268
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005770	Component	Late endosome	IDA	15052268
GO:0005794	Component	Golgi apparatus	IDA	27435297
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0007032	Process	Endosome organization	IMP	23918659
GO:0008333	Process	Endosome to lysosome transport	IMP	25783203
GO:0015031	Process	Protein transport	IMP	15052268
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0016192	Process	Vesicle-mediated transport	IDA	15790593
GO:0017185	Process	Peptidyl-lysine hydroxylation	IMP	27435297
GO:0030136	Component	Clathrin-coated vesicle	IDA	21411634
GO:0030897	Component	HOPS complex	IDA	19109425
GO:0030897	Component	HOPS complex	IDA	25783203
GO:0031091	Component	Platelet alpha granule	IDA	16123220
GO:0031901	Component	Early endosome membrane	IDA	21411634
GO:0031902	Component	Late endosome membrane	IEA
GO:0032400	Process	Melanosome localization	IDA	15790593
GO:0032418	Process	Lysosome localization	IDA	15790593
GO:0032963	Process	Collagen metabolic process	IMP	27435297
GO:0033263	Component	CORVET complex	IBA	21873635
GO:0044877	Function	Protein-containing complex binding	IPI	21411634
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19109425
GO:0055037	Component	Recycling endosome	IEA
GO:0061025	Process	Membrane fusion	IMP	15052268
GO:0070889	Process	Platelet alpha granule organization	IMP	16123220
GO:0097352	Process	Autophagosome maturation	IMP	25783203

MIM	HGNC	e!Ensembl
608552	12712	ENSG00000184056

Protein

UniProt ID

Q9H267

Protein name

Vacuolar protein sorting-associated protein 33B (hVPS33B)

Protein function

May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of the collagen-modifying enzyme lysyl hydroxyl

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00995	Sec1	37 → 611	Sec1 family	Family

Sequence

MAFPHRPDAPELPDFSMLKRLARDQLIYLLEQLPGKKDLFIEADLMSPLDRIANVSILKQ
HEVDKLYKVENKPALSSNEQLCFLVRPRIKNMRYIASLVNADKLAGRTRKYKVIFSPQKF
YACEMVLEEEGIYGDVSCDEWAFSLLPLDVDLLSMELPEFFRDYFLEGDQRWINTVAQAL
HLLSTLYGPFPNCYGIGRCAKMAYELWRNLEEEEDGETKGRRPEIGHIFLLDRDVDFVTA
LCSQVVYEGLVDDTFRIKCGSVDFGPEVTSSDKSLKVLLNAEDKVFNEIRNEHFSNVFGF
LSQKARNLQAQYDRRRGMDIKQMKNFVSQELKGLKQEHRLLSLHIGACESIMKKKTKQDF
QELIKTEHALLEGFNIRESTSYIEEHIDRQVSPIESLRLMCLLSITENGLIPKDYRSLKT
QYLQSYGPEHLLTFSNLRRAGLLTEQAPGDTLTAVESKVSKLVTDKAAGKITDAFSSLAK
RSNFRAISKKLNLIPRVDGEYDLKVPRDMAYVFGGAYVPLSCRIIEQVLERRSWQGLDEV
VRLLNCSDFAFTDMTKEDKASSESLRLILVVFLGGCTFSEISALRFLGREKGYRFIFLTT
AVTNSARLMEAMSEVKA

Sequence length

617

Interactions

View interactions

	Reactome
			Prevention of phagosomal-lysosomal fusion

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	18853461
Arthrogryposis, renal dysfunction, and cholestasis	Arthrogryposis, renal dysfunction, and cholestasis 1, Arthrogryposis-renal dysfunction-cholestasis syndrome	rs267607173, rs794726653, rs200370925, rs267607171, rs267607172, rs121434383, rs121434384, rs121434385, rs794726658, rs1555460030, rs398122407, rs398122408, rs864622006, rs769333468, rs751858602, rs372769808, rs747749610, rs1555364979, rs1555366438, rs1555459218, rs1555459968, rs11542638, rs1594910243, rs1596358564, rs1594929571, rs1594895847, rs1596348299	19274792, 15052268, 16896922, 23918659, 21851503, 24782640, 25239142, 22753090, 18853461, 24917129, 20190753
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
Congenital anomalies of kidney and urinary tract	Cakut	rs267606865, rs121908436, rs281875326, rs879255515, rs75462234, rs869320679, rs760905589, rs797045022, rs869320624, rs745597204, rs1114167358, rs1555879360, rs1577330805, rs1008555507	18853461
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	22885922, 24509480
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
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	24917129, 18853461, 15052268, 16896922, 22753090
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (6)

Unknown
Disease name	Disease term	dbSNP ID	References
Cholestatic liver disease	Cholestatic liver disease
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia
Micrognathism	Micrognathism
Nephrocalcinosis	Nephrocalcinosis
Vacuolar myopathy	Vacuolar myopathy		16896922
Ventricular hypertrophy	Right Ventricular Hypertrophy

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