SGCG (sarcoglycan gamma)

Gene

• Entrez ID: 6445
• Gene name: Sarcoglycan gamma
• Gene symbol: SGCG
• Synonyms: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM, SCARMD2, gamma-SG
• Chromosome: 13
• Chromosome location: 13q12.12
• Summary: This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystrogly

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114160429	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140810408	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144497243	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs149595403	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199905729	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200206447	T>A,C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs200502077	G>C	Pathogenic, likely-pathogenic	Splice donor variant
rs560640452	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs762777463	->T	Pathogenic	Frameshift variant, coding sequence variant
rs774582375	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs781760379	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204786	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045106	AGTA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs886042540	TTACTGT>-	Pathogenic	Coding sequence variant, stop gained
rs886042757	A>G	Pathogenic	Splice acceptor variant
rs913248720	G>A	Likely-pathogenic	Splice acceptor variant
rs1262459682	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1432706111	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555234799	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555234810	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555240119	A>C	Likely-pathogenic	Splice acceptor variant
rs1555245353	G>C	Likely-pathogenic	Splice donor variant
rs1566011034	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1593197637	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593216248	T>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1342989	hsa-miR-1278	CLIP-seq
MIRT1342990	hsa-miR-2113	CLIP-seq
MIRT1342991	hsa-miR-3179	CLIP-seq
MIRT1342992	hsa-miR-33a	CLIP-seq
MIRT1342993	hsa-miR-33b	CLIP-seq
MIRT1342994	hsa-miR-342-3p	CLIP-seq
MIRT1342995	hsa-miR-3611	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342997	hsa-miR-4260	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT1342999	hsa-miR-4420	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT1343003	hsa-miR-4711-3p	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT1343007	hsa-miR-486-3p	CLIP-seq
MIRT1343008	hsa-miR-517b	CLIP-seq
MIRT1343009	hsa-miR-548g	CLIP-seq
MIRT1343010	hsa-miR-578	CLIP-seq
MIRT1343011	hsa-miR-581	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT1343013	hsa-miR-592	CLIP-seq
MIRT1343014	hsa-miR-599	CLIP-seq
MIRT2101375	hsa-miR-128	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2101377	hsa-miR-142-5p	CLIP-seq
MIRT2101378	hsa-miR-323-3p	CLIP-seq
MIRT2101379	hsa-miR-340	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT1342996	hsa-miR-421	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2101382	hsa-miR-4703-3p	CLIP-seq
MIRT1343001	hsa-miR-4708-3p	CLIP-seq
MIRT1343002	hsa-miR-4709-5p	CLIP-seq
MIRT2101383	hsa-miR-4718	CLIP-seq
MIRT1343004	hsa-miR-4761-3p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2101384	hsa-miR-485-3p	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq
MIRT2621548	hsa-miR-1185	CLIP-seq
MIRT2621549	hsa-miR-1294	CLIP-seq
MIRT2101376	hsa-miR-1299	CLIP-seq
MIRT2621550	hsa-miR-1301	CLIP-seq
MIRT2621551	hsa-miR-1827	CLIP-seq
MIRT2621552	hsa-miR-3123	CLIP-seq
MIRT2621553	hsa-miR-3605-5p	CLIP-seq
MIRT2621554	hsa-miR-3679-5p	CLIP-seq
MIRT2101380	hsa-miR-3682-5p	CLIP-seq
MIRT2621555	hsa-miR-3944-5p	CLIP-seq
MIRT2621556	hsa-miR-4264	CLIP-seq
MIRT2621557	hsa-miR-4278	CLIP-seq
MIRT2621558	hsa-miR-4292	CLIP-seq
MIRT1342998	hsa-miR-4303	CLIP-seq
MIRT2621559	hsa-miR-4308	CLIP-seq
MIRT2621560	hsa-miR-4316	CLIP-seq
MIRT2101381	hsa-miR-4326	CLIP-seq
MIRT2621561	hsa-miR-4455	CLIP-seq
MIRT2621562	hsa-miR-4660	CLIP-seq
MIRT2621563	hsa-miR-4662a-3p	CLIP-seq
MIRT2621564	hsa-miR-4664-3p	CLIP-seq
MIRT2621565	hsa-miR-4667-5p	CLIP-seq
MIRT1343000	hsa-miR-4682	CLIP-seq
MIRT2621566	hsa-miR-4700-5p	CLIP-seq
MIRT2621567	hsa-miR-4716-3p	CLIP-seq
MIRT2621568	hsa-miR-4723-5p	CLIP-seq
MIRT1343005	hsa-miR-4762-3p	CLIP-seq
MIRT1343006	hsa-miR-4775	CLIP-seq
MIRT2621569	hsa-miR-5047	CLIP-seq
MIRT1343012	hsa-miR-590-3p	CLIP-seq
MIRT2621570	hsa-miR-609	CLIP-seq
MIRT2621571	hsa-miR-622	CLIP-seq
MIRT2621572	hsa-miR-637	CLIP-seq
MIRT2101385	hsa-miR-671-5p	CLIP-seq
MIRT2101386	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23414517, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS	8641426
GO:0007517	Process	Muscle organ development	TAS	8641426
GO:0016012	Component	Sarcoglycan complex	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0048738	Process	Cardiac muscle tissue development	IBA	21873635
GO:0060047	Process	Heart contraction	IBA	21873635

Other IDs

• MIM: 608896
• HGNC: 10809
• e!Ensembl: ENSG00000102683

Protein

• UniProt ID: Q13326
• Protein name: Gamma-sarcoglycan (Gamma-SG) (35 kDa dystrophin-associated glycoprotein) (35DAG)
• Protein function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04790	Sarcoglycan_1	25 → 279	Sarcoglycan complex subunit protein	Family

• Sequence:

  MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKV
  MWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEG
  EVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVE
  TPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
  TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL

• Sequence length: 291

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	17568789
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	23300278
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Limb-girdle muscular dystrophy	Muscular Dystrophies, Limb-Girdle, Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542
Muscular dystrophy	Muscular Dystrophy, Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710	9266733, 16832103, 11801399, 20623375, 27708273, 24638197, 17897828, 19770540, 12566530, 12040521, 10942431, 24534832, 7481775, 18285821, 20345928, 9673983, 25802879, 24552312, 25605665, 22095924, 23929688, 8968757, 22240777, 10714584, 9781048, 14981741, 30345904, 8923014, 9658457
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Macroglossia	Macroglossia
Osteoarthrosis deformans	Osteoarthrosis Deformans		17568789
Ventricular hypertrophy	Right Ventricular Hypertrophy
Ventricular systolic dysfunction	Left ventricular systolic dysfunction
Right ventricular dilatation	Right ventricular dilatation