Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
|
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 View all (32 more) |
|
Developmental regression |
Developmental regression |
rs1224421127 |
|
Encephalopathy |
Encephalopathy due to prosaposin deficiency |
rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842 View all (107 more) |
|
Gaucher disease |
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY, Atypical Gaucher disease due to saposin C deficiency |
rs121908295, rs79653797, rs80356769, rs1064651, rs77369218, rs80356771, rs77829017, rs74500255, rs381737, rs387906315, rs121908310, rs121908298, rs76539814, rs397518433, rs121908299, rs75822236, rs121908302, rs364897, rs121908303, rs121908304, rs121908305, rs121908306, rs121908307, rs1141814, rs397518434, rs121908308, rs74598136, rs78198234, rs121908309, rs121908311, rs78973108, rs80356763, rs121908312, rs121908313, rs121908314, rs1571964338, rs121918105, rs121918106, rs121918108, rs121918109, rs121918110, rs80356772, rs1064644, rs439898, rs104886460, rs398123527, rs398123528, rs421016, rs398123530, rs398123532, rs61748906, rs381418, rs409652, rs80356768, rs794727908, rs747506979, rs878853317, rs878853320, rs878853315, rs878853321, rs878853314, rs1553217946, rs1553333346, rs1553217314, rs1553217879, rs1553217009, rs1553217294, rs1553216985, rs149171124, rs1553217626, rs772548282, rs1557901325, rs754743440, rs773409311, rs867929413, rs749714463, rs79796061, rs1237637353, rs761621516, rs1571969643, rs755265316, rs1571965880, rs765633380, rs1671890998 View all (69 more) |
2060627, 17919309, 10682309, 27604308 |
Leukodystrophy |
Leukodystrophy, Infantile Globoid Cell Leukodystrophy |
rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 View all (6 more) |
15773042 |
Metachromatic leukodystrophy |
Metachromatic leukodystrophy, juvenile type, Metachromatic Leukodystrophy, Infant, Metachromatic Leukodystrophy, Adult-Type (disorder), Metachromatic leukodystrophy, adult form, Metachromatic leukodystrophy, late infantile form, Metachromatic leukodystrophy, juvenile form |
rs118203941, rs118203943, rs80338815, rs28940893, rs74315455, rs74315456, rs74315457, rs80338820, rs74315460, rs74315463, rs74315467, rs74315470, rs74315471, rs74315472, rs74315473, rs74315474, rs74315475, rs74315476, rs74315477, rs74315478, rs74315479, rs1569077723, rs74315481, rs28940894, rs74315483, rs28940895, rs74315485, rs759960679, rs121918110, rs74315458, rs80338819, rs199476391, rs199476380, rs199476351, rs199476352, rs60504011, rs199476358, rs199476373, rs199476375, rs199476365, rs199476345, rs199476341, rs199476366, rs199476384, rs199476367, rs199476342, rs199476355, rs199476349, rs199476389, rs199476359, rs199476360, rs199476356, rs199476382, rs398123411, rs398123414, rs398123415, rs398123416, rs398123418, rs398123419, rs774153480, rs765905826, rs754722529, rs786204673, rs786204599, rs80338823, rs768028181, rs886041911, rs761860059, rs1057517237, rs1057517036, rs1057516887, rs1057516638, rs1057517073, rs1057516373, rs1057516907, rs762284875, rs1057517429, rs1057517346, rs1057517044, rs1057516730, rs745884435, rs1057516595, rs1057516288, rs148092995, rs755635209, rs761606317, rs1085308016, rs1135401757, rs1135401756, rs1135401755, rs763880042, rs1135401754, rs551472773, rs750030142, rs1375757476, rs769892461, rs1555900849, rs761555167, rs1555900678, rs74315270, rs1555900900, rs753415648, rs1555900191, rs1555901056, rs1555901108, rs1555901112, rs1555900463, rs769152137, rs1555900623, rs1555901083, rs1227301119, rs1555900150, rs776748338, rs1555900989, rs1555901170, rs1431844269, rs1561197425, rs1569081823, rs1603444908, rs1603445026, rs2082644196, rs2082663514, rs74315459, rs751026400, rs2082689435, rs2082690324, rs2082676596, rs74315468, rs770171865, rs121918106, rs2082657747, rs1188592346, rs754898479, rs2082684340, rs146371968 View all (120 more) |
24478108 |
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 View all (37 more) |
|
Polyneuropathy |
Polyneuropathy |
rs1597597437 |
|
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
|
Seizure |
Tonic - clonic seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 View all (179 more) |
|
Sphingolipid activator protein 1 deficiency |
Metachromatic Leukodystrophy due to Saposin B Deficiency |
rs121918103, rs759960679, rs121918104, rs121918106, rs1589451049, rs121918107, rs1589446748, rs1589451050, rs1589448124, rs1554880848, rs1564815053, rs1431844269, rs770171865 |
2302219, 2019586, 24357685, 10682309, 30632081, 10196694, 17919309, 2320574, 27604308 |
|