MSL3 (MSL complex subunit 3)

Gene

• Entrez ID: 10943
• Gene name: MSL complex subunit 3
• Gene symbol: MSL3
• Synonyms: MRSXBA, MRXS36, MRXSBA, MSL3L1
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs768515139	C>-,CC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555906707	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555906768	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555906781	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555907215	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907620	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1555907623	ATTGTTTG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907626	G>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1555907653	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1555907864	GC>A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1601769604	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601769873	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601774648	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049772	hsa-miR-92a-3p	qRT-PCR	23622248
MIRT051352	hsa-let-7f-5p	CLASH	23622248
MIRT051183	hsa-miR-16-5p	CLASH	23622248
MIRT050657	hsa-miR-18a-5p	CLASH	23622248
MIRT050069	hsa-miR-26a-5p	CLASH	23622248
MIRT049772	hsa-miR-92a-3p	CLASH	23622248
MIRT048163	hsa-miR-196a-5p	CLASH	23622248
MIRT048029	hsa-miR-148a-3p	CLASH	23622248
MIRT047555	hsa-miR-10a-5p	CLASH	23622248
MIRT047419	hsa-miR-10b-5p	CLASH	23622248
MIRT045319	hsa-miR-185-5p	CLASH	23622248
MIRT045135	hsa-miR-186-5p	CLASH	23622248
MIRT042164	hsa-miR-484	CLASH	23622248
MIRT039372	hsa-miR-421	CLASH	23622248
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT1161691	hsa-miR-103a	CLIP-seq
MIRT1161692	hsa-miR-107	CLIP-seq
MIRT1161693	hsa-miR-122	CLIP-seq
MIRT1161694	hsa-miR-1228	CLIP-seq
MIRT1161695	hsa-miR-129-5p	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT1161697	hsa-miR-2277-3p	CLIP-seq
MIRT1161698	hsa-miR-3145-3p	CLIP-seq
MIRT1161699	hsa-miR-3184	CLIP-seq
MIRT1161700	hsa-miR-3189-5p	CLIP-seq
MIRT1161701	hsa-miR-3198	CLIP-seq
MIRT1161702	hsa-miR-3647-3p	CLIP-seq
MIRT1161703	hsa-miR-365	CLIP-seq
MIRT1161704	hsa-miR-370	CLIP-seq
MIRT1161705	hsa-miR-423-5p	CLIP-seq
MIRT1161706	hsa-miR-4309	CLIP-seq
MIRT1161707	hsa-miR-4514	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT1161711	hsa-miR-4692	CLIP-seq
MIRT1161712	hsa-miR-4705	CLIP-seq
MIRT1161713	hsa-miR-4711-3p	CLIP-seq
MIRT1161714	hsa-miR-4729	CLIP-seq
MIRT1161715	hsa-miR-4738-3p	CLIP-seq
MIRT1161716	hsa-miR-4758-3p	CLIP-seq
MIRT1161717	hsa-miR-4766-5p	CLIP-seq
MIRT1161718	hsa-miR-4794	CLIP-seq
MIRT1161719	hsa-miR-566	CLIP-seq
MIRT1161720	hsa-miR-654-3p	CLIP-seq
MIRT2046406	hsa-miR-27a	CLIP-seq
MIRT2046407	hsa-miR-27b	CLIP-seq
MIRT2046408	hsa-miR-409-3p	CLIP-seq
MIRT2046409	hsa-miR-4760-5p	CLIP-seq
MIRT2046410	hsa-miR-513a-5p	CLIP-seq
MIRT2275487	hsa-miR-1225-3p	CLIP-seq
MIRT2275488	hsa-miR-4323	CLIP-seq
MIRT2275489	hsa-miR-4761-5p	CLIP-seq
MIRT2574357	hsa-miR-1208	CLIP-seq
MIRT2574358	hsa-miR-1273g	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT2574359	hsa-miR-3140-3p	CLIP-seq
MIRT2574360	hsa-miR-3672	CLIP-seq
MIRT2574361	hsa-miR-3973	CLIP-seq
MIRT2574362	hsa-miR-423-3p	CLIP-seq
MIRT2574363	hsa-miR-4420	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT2574364	hsa-miR-4638-5p	CLIP-seq
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT2574365	hsa-miR-4797-5p	CLIP-seq
MIRT2574366	hsa-miR-502-5p	CLIP-seq
MIRT2574367	hsa-miR-518a-5p	CLIP-seq
MIRT2574368	hsa-miR-527	CLIP-seq
MIRT2574369	hsa-miR-548a-5p	CLIP-seq
MIRT2574370	hsa-miR-548ab	CLIP-seq
MIRT2574371	hsa-miR-548ak	CLIP-seq
MIRT2574372	hsa-miR-548b-5p	CLIP-seq
MIRT2574373	hsa-miR-548c-5p	CLIP-seq
MIRT2574374	hsa-miR-548d-5p	CLIP-seq
MIRT2574375	hsa-miR-548h	CLIP-seq
MIRT2574376	hsa-miR-548i	CLIP-seq
MIRT2574377	hsa-miR-548j	CLIP-seq
MIRT2574378	hsa-miR-548w	CLIP-seq
MIRT2574379	hsa-miR-548y	CLIP-seq
MIRT2574380	hsa-miR-559	CLIP-seq
MIRT2574357	hsa-miR-1208	CLIP-seq
MIRT2275487	hsa-miR-1225-3p	CLIP-seq
MIRT2574358	hsa-miR-1273g	CLIP-seq
MIRT1161696	hsa-miR-203	CLIP-seq
MIRT2574359	hsa-miR-3140-3p	CLIP-seq
MIRT2685386	hsa-miR-3613-3p	CLIP-seq
MIRT2574360	hsa-miR-3672	CLIP-seq
MIRT2685387	hsa-miR-3945	CLIP-seq
MIRT2574362	hsa-miR-423-3p	CLIP-seq
MIRT2685388	hsa-miR-4253	CLIP-seq
MIRT2275488	hsa-miR-4323	CLIP-seq
MIRT2574363	hsa-miR-4420	CLIP-seq
MIRT1161708	hsa-miR-4520a-3p	CLIP-seq
MIRT1161709	hsa-miR-4520b-3p	CLIP-seq
MIRT1161710	hsa-miR-4529-3p	CLIP-seq
MIRT2574364	hsa-miR-4638-5p	CLIP-seq
MIRT1161688	hsa-miR-4659a-5p	CLIP-seq
MIRT1161689	hsa-miR-4659b-5p	CLIP-seq
MIRT2275489	hsa-miR-4761-5p	CLIP-seq
MIRT1161690	hsa-miR-4776-3p	CLIP-seq
MIRT2574365	hsa-miR-4797-5p	CLIP-seq
MIRT2574366	hsa-miR-502-5p	CLIP-seq
MIRT2574367	hsa-miR-518a-5p	CLIP-seq
MIRT2574368	hsa-miR-527	CLIP-seq
MIRT2685389	hsa-miR-541	CLIP-seq
MIRT2685390	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000123	Component	Histone acetyltransferase complex	IBA	21873635
GO:0003677	Function	DNA binding	IDA	20657587
GO:0005515	Function	Protein binding	IPI	30224647, 32814053
GO:0005634	Component	Nucleus	IDA	30224647
GO:0005654	Component	Nucleoplasm	TAS
GO:0006342	Process	Chromatin silencing	IBA	21873635
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	30224647
GO:0016573	Process	Histone acetylation	IBA	21873635
GO:0016575	Process	Histone deacetylation	IBA	21873635
GO:0035064	Function	Methylated histone binding	IDA	20657587
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA	21873635
GO:0043967	Process	Histone H4 acetylation	IBA	21873635
GO:0043968	Process	Histone H2A acetylation	IBA	21873635
GO:0043984	Process	Histone H4-K16 acetylation	IBA	21873635
GO:0043984	Process	Histone H4-K16 acetylation	IDA	20018852
GO:0043984	Process	Histone H4-K16 acetylation	IMP	30224647
GO:0046972	Function	Histone acetyltransferase activity (H4-K16 specific)	IMP	30224647
GO:0072487	Component	MSL complex	IBA	21873635
GO:0072487	Component	MSL complex	IDA	20018852, 30224647

Other IDs

• MIM: 300609
• HGNC: 7370
• e!Ensembl: ENSG00000005302

Protein

• UniProt ID: Q8N5Y2
• Protein name: MSL complex subunit 3 (Male-specific lethal 3 homolog) (Male-specific lethal-3 homolog 1) (Male-specific lethal-3 protein-like 1) (MSL3-like 1)
• Protein function: Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubM
• PDB: 2Y0N, 3OA6, 3OB9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11717	Tudor-knot	11 → 74	RNA binding activity-knot of a chromodomain	Family
  PF05712	MRG	151 → 506	MRG	Family

• Sequence:

  MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAKIVDVIVGKDEKGRKIPEYLIHFNGWN
  RSWDRWAAEDHVLRDTDENRRLQRKLARKAVARLRSTGRKKKRCRLPGVDSVLKGLPTEE
  KDENDENSLSSSSDCSENKDEEISEESDIEEKTEVKEEPELQTRREMEERTITIEIPEVL
  KKQLEDDCYYINRRKRLVKLPCQTNIITILESYVKHFAINAAFSANERPRHHHVMPHANM
  NVHYIPAEKNVDLCKEMVDGLRITFDYTLPLVLLYPYEQAQYKKVTSSKFFLPIKESATS
  TNRSQEELSPSPPLLNPSTPQSTESQPTTGEPATPKRRKAEPEALQSLRRSTRHSANCDR
  LSESSASPQPKRRQQDTSASMPKLFLHLEKKTPVHSRSSSPIPLTPSKEGSAVFAGFEGR
  RTNEINEVLSWKLVPDNYPPGDQPPPPSYIYGAQHLLRLFVKLPEILGKMSFSEKNLKAL
  LKHFDLFLRFLAEYHDDFFPESAYVAACEAHYSTKNPRAIY

• Sequence length: 521

Pathways

Reactome:

HATs acetylate histones

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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	30224647

Unknown
Disease name	Disease term	dbSNP ID	References
Development disorder	Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific		30224647
Dysmorphic features	Dysmorphic features		25900149, 20943666, 24898753, 28135719, 20657587, 16227571, 15988010
Gait disturbance	Gait Disorders, Neurologic		30224647