SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28932769 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs56679084 |
C>G |
Uncertain-significance, pathogenic, not-provided |
Missense variant, coding sequence variant |
rs57120761 |
G>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs57590980 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs57661783 |
C>A,T |
Pathogenic, not-provided |
Stop gained, missense variant, coding sequence variant |
rs57815192 |
T>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs58008462 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs58064122 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs58075601 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs58536923 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs58645997 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs58732244 |
T>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59285727 |
C>A,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59565950 |
C>A,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59568967 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59628143 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59661476 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59793293 |
G>A,C,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs59985777 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60095124 |
T>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60269890 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60343255 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60449251 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60551555 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs60825166 |
G>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61060395 |
A>C,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61497286 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61622935 |
G>A,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61726468 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61726470 |
G>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs61726471 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs62635764 |
C>A |
Pathogenic, not-provided |
Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
rs62636501 |
T>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs112611995 |
G>C |
Pathogenic |
Intron variant |
rs121909717 |
G>A,C,T |
Pathogenic, not-provided |
Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, missense variant |
rs121909718 |
C>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs121909719 |
C>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs121909720 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs267607500 |
C>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607501 |
CCTT>ACTC |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607502 |
T>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607503 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607504 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607505 |
T>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607506 |
A>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607507 |
C>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607508 |
G>A,T |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant |
rs267607509 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607510 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs267607511 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607512 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607513 |
G>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607514 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607515 |
A>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607516 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607517 |
G>A,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607518 |
C>A,G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607519 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607520 |
T>G |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant |
rs267607521 |
T>A |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs267607523 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607525 |
T>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs267607526 |
C>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs571151302 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
rs748860341 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, 3 prime UTR variant, intron variant |
rs775524073 |
G>A,T |
Likely-pathogenic |
3 prime UTR variant, intron variant, synonymous variant, coding sequence variant |
rs797044569 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs797044570 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797044571 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797044572 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044573 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs797044574 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044575 |
->GCCGCAGCT |
Pathogenic |
Inframe insertion, coding sequence variant |
rs797044576 |
->CGCAGC |
Pathogenic |
Inframe insertion, coding sequence variant |
rs797044577 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797044578 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs797044579 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044580 |
CA>AG |
Pathogenic |
Missense variant, coding sequence variant |
rs797044581 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044582 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs797044583 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs797044584 |
->CAAGTG |
Pathogenic |
Inframe insertion, coding sequence variant |
rs797044585 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044586 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs797044587 |
G>C |
Pathogenic |
Coding sequence variant, synonymous variant |
rs797044588 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs797044589 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs797044590 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs797044591 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant |
rs797044592 |
CAGCTAAC>GAT |
Pathogenic |
Frameshift variant, terminator codon variant, splice donor variant, 3 prime UTR variant, intron variant |
rs1057518685 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057518828 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1555573462 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant |
rs1555574517 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1567773470 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1597853099 |
G>A |
Likely-pathogenic |
Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant |
rs1597864461 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alexander disease |
Alexander Disease, Alexander disease type II, Alexander disease type I |
rs58064122, rs59565950, rs121909717, rs59285727, rs59793293, rs61622935, rs57120761, rs58732244, rs121909718, rs121909719, rs28932769, rs121909720, rs267607515, rs267607511, rs62636501, rs58008462, rs58075601, rs267607512, rs61726471, rs60343255, rs57590980, rs267607518, rs267607509, rs61726470, rs267607514, rs267607508, rs797044592, rs797044590, rs797044588, rs797044582, rs797044579, rs797044578, rs61060395, rs797044570, rs1057518685, rs571151302, rs1567773470, rs1597864461, rs1597853099 View all (24 more) |
12581808, 16217707, 18584981, 18054694, 20849398, 15390001, 18217876, 17934883, 12447932, 23743246, 20359319, 11867077, 12638020, 24742911, 19412928, 15675360, 23185175, 23706596, 16996408, 15696488, 11567214, 21041050, 17960815, 15732097, 12026242, 29095329, 22198646, 18653683, 18079314, 11138011, 17043438, 12034785, 18402384, 15465095, 11595337, 17805552, 16168593, 1941292, 18495313, 15030911, 22488673, 14557587, 21917775, 24306001, 21132324, 23254569, 16168595, 21270471, 23903069, 24045243, 24896178, 1250985, 18004641, 24357685, 14550921, 22619055, 12944715, 15477559, 17894839, 17156703, 17383133, 16240361, 12975300, 12368989, 17110673, 22302460, 22818990, 21572052, 24427505, 16505300, 12034796, 17438228, 21822933, 15732098, 23925719, 23149175, 20562394, 23634874, 18388212, 17985264, 17629821, 22566711, 21165639, 24188966, 19672978, 19418047, 19128991, 17509491, 21533827, 23364391, 18581469, 18684770, 17703343, 19618846, 21987397 View all (80 more) |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic Lateral Sclerosis, Familial |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 View all (171 more) |
11723166, 11796754 |
Developmental regression |
Developmental regression |
rs1224421127 |
|
Epilepsy |
Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy |
rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 View all (165 more) |
21177194 |
Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
|
Lateral sclerosis |
AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic |
rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 |
11796754 |
Neuronal ceroid lipofuscinosis |
Ceroid lipofuscinosis, neuronal 1, infantile |
rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549 View all (397 more) |
21224254 |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
19276553 |
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) |
19405953, 15885920 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder |
|
11754076, 19000745, 25098258, 18585900 |
ClinVar |
Alexander Disease |
Alexander disease type II |
|
|
GenCC |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
37002988, 37268240, 39913635 |
Adenocarcinoma |
Associate
|
35077636 |
Adenoma |
Associate
|
33001343, 36307634 |
Adenoma Pleomorphic |
Associate
|
17824792, 19668151 |
Adrenal Cortex Neoplasms |
Associate
|
24755947 |
AIDS Associated Nephropathy |
Inhibit
|
19886840 |
AIDS Associated Nephropathy |
Associate
|
31805958 |
Airway Obstruction |
Associate
|
39643430 |
Alexander Disease |
Associate
|
11567214, 16168593, 17038307, 17043438, 18388212, 18402384, 18653683, 18685083, 20110364, 20964669, 21572052, 21756903, 21917775, 21987397, 22488673, 23634874, 23743246, 24755947, 25997626, 26719496, 27402089, 27798231, 27814755, 28438749, 28580052, 30126635, 31004048, 31484723, 31611638, 31682229, 31952467, 32126152, 34046764, 34109421, 34888830, 35511821, 35831840, 35983725, 37000960, 39643430, 39868835, 40043923, 40329038 View all (28 more) |
Alzheimer Disease |
Associate
|
19072283, 19686046, 19888461, 22832605, 23602650, 24269023, 2529544, 30040709, 30578620, 31454549, 32711556, 33049317, 33749648, 33905124, 34966527, 35383826, 36626935, 37002988, 37079306, 37268240, 37500404, 37533101, 37537264, 37697307, 37715200, 37848007, 37924152, 38554950, 39210294, 39385222, 39934339 View all (16 more) |
Alzheimer Disease |
Stimulate
|
34828359, 36776057, 38178159, 39940998 |
Amyotrophic Lateral Sclerosis |
Associate
|
23341441, 24312501, 30572951, 33167591, 36525477 |
Amyotrophic Lateral Sclerosis |
Stimulate
|
24312501 |
Anorexia |
Associate
|
22198646 |
Aphasia Primary Progressive |
Associate
|
35046935 |
Aphasia Primary Progressive |
Stimulate
|
36707904 |
Arterio Arterial Fistula |
Associate
|
33648532 |
Arthritis Rheumatoid |
Associate
|
23418544 |
Astrocytoma |
Associate
|
18691268, 19170683, 21075782, 23634874, 25973108, 26990854, 30520434, 33642282, 36350974, 8378327 |
Ataxia |
Associate
|
23743246 |
Atrophy |
Associate
|
22198646, 31937580, 36192766 |
Atrophy |
Stimulate
|
26218733 |
Autism Spectrum Disorder |
Stimulate
|
36769380 |
Autism Spectrum Disorder |
Associate
|
37652704 |
Autistic Disorder |
Associate
|
21901840 |
Bipolar Disorder |
Associate
|
19488045 |
Brain Concussion |
Associate
|
38643415 |
Brain Diseases |
Associate
|
36811765, 37002988, 37924152 |
Brain Edema |
Associate
|
24164438 |
Brain Injuries |
Associate
|
30797587, 39290417, 39314520 |
Brain Injuries Traumatic |
Associate
|
29969943, 30423808, 31417126 |
Brain Neoplasms |
Inhibit
|
16457706 |
Brain Neoplasms |
Associate
|
20235875, 33208163 |
Breast Neoplasms |
Associate
|
37834358 |
Calcinosis |
Associate
|
20964669 |
Carcinoma |
Associate
|
13679444 |
Carcinoma Hepatocellular |
Associate
|
22272636, 23601182 |
Central Nervous System Infections |
Associate
|
29226988 |
Cerebral Cortical Thinning |
Associate
|
37002988 |
Cerebral Infarction |
Stimulate
|
24578611, 33734490, 39290417 |
Chemical and Drug Induced Liver Injury |
Associate
|
18508359 |
Chondrosarcoma |
Associate
|
19668151 |
Chondrosarcoma Extraskeletal Myxoid |
Associate
|
22569967 |
Choroid Plexus Neoplasms |
Associate
|
2438940 |
Cognition Disorders |
Associate
|
32066474, 37500404 |
Cognition Disorders |
Stimulate
|
36601110 |
Cognitive Dysfunction |
Associate
|
19886840, 37537264 |
Cognitive Dysfunction |
Stimulate
|
32066474 |
Colitis Ulcerative |
Stimulate
|
21235736 |
Communicable Diseases |
Stimulate
|
21235736 |
COVID 19 |
Associate
|
35063743, 36056566, 37834358 |
Creutzfeldt Jakob Disease Sporadic |
Associate
|
23780662 |
Creutzfeldt Jakob Syndrome |
Stimulate
|
30009661 |
Creutzfeldt Jakob Syndrome |
Associate
|
30009661 |
Crohn Disease |
Inhibit
|
21235736 |
Cytomegalovirus Infections |
Inhibit
|
20071566 |
Death |
Associate
|
31682229 |
Delirium |
Associate
|
39210294 |
Dementia |
Associate
|
37002988, 37834358, 37951931, 39643430 |
Demyelinating Autoimmune Diseases CNS |
Associate
|
17043438 |
Demyelinating Diseases |
Associate
|
24907905, 30388417 |
Dental Caries |
Associate
|
20802180 |
Dentin dysplasia sclerotic bones |
Associate
|
17515952 |
Depressive Disorder Major |
Associate
|
33479350 |
Developmental Disabilities |
Associate
|
30388417 |
Diabetes Mellitus |
Associate
|
18709137 |
Diabetes Mellitus |
Stimulate
|
23335850 |
Diabetic Retinopathy |
Associate
|
35262732 |
Diabetic Retinopathy |
Stimulate
|
36430950 |
Diffuse Cerebral Sclerosis of Schilder |
Associate
|
37259148 |
Diffuse Intrinsic Pontine Glioma |
Associate
|
24076776 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
35164877 |
DiGeorge Syndrome |
Associate
|
27801899 |
Down Syndrome |
Associate
|
2529544, 29509279, 32819430, 37002988 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
31484723 |
Drug Resistant Epilepsy |
Associate
|
21315622 |
Dystonic Disorders |
Associate
|
37697307 |
Endometrial Stromal Tumors |
Associate
|
30340515 |
Ependymoma |
Associate
|
6192722 |
Epilepsia Partialis Continua |
Associate
|
26719496 |
Epilepsy |
Associate
|
30681365, 37833937 |
Epilepsy Familial Mesial Temporal Lobe |
Stimulate
|
25889039 |
Epilepsy Post Traumatic |
Associate
|
29188495 |
Epilepsy Temporal Lobe |
Associate
|
31321953, 36274170 |
Epiretinal Membrane |
Associate
|
12928287, 15156160, 29738569 |
Epstein Barr Virus Infections |
Associate
|
36482607 |
Fever |
Associate
|
36482607 |
Fibrosis |
Associate
|
18508359 |
Focal Cortical Dysplasia |
Associate
|
37587190 |
Focal Nodular Hyperplasia |
Associate
|
32058355 |
Fragile X Syndrome |
Associate
|
33993189 |
Fragile X Tremor Ataxia Syndrome |
Associate
|
38069470 |
Frailty |
Stimulate
|
40399764 |
Frasier Syndrome |
Associate
|
28660986 |
Frontotemporal Dementia |
Associate
|
31937580, 34633446, 39934339, 39940998 |
Frontotemporal Dementia |
Stimulate
|
39577322 |
Frontotemporal Lobar Degeneration |
Associate
|
20886841, 36215050 |
Gaucher Disease |
Associate
|
31669751 |
Geographic Atrophy |
Stimulate
|
12928288 |
Giant Axonal Neuropathy |
Associate
|
27798231 |
Glaucoma |
Associate
|
25837926 |
Glaucoma Open Angle |
Associate
|
19145252 |
Glioblastoma |
Associate
|
12084347, 12946225, 17189382, 17465990, 19216795, 19288188, 20154711, 20235875, 20383808, 24075410, 28677106, 29364250, 29746255, 31311947, 31534165, 32998285, 33251771, 33735443, 35327982, 8378327 View all (5 more) |
Glioblastoma |
Inhibit
|
16457706 |
Glioma |
Associate
|
10896661, 10936178, 18398462, 19813143, 20221446, 21075782, 22492246, 23589055, 23839947, 23852377, 27179220, 2825464, 30285781, 30770778, 33583081, 33607293, 34170383, 35713454, 8456947, 9439685 View all (5 more) |
Gliosarcoma |
Associate
|
35381788 |
Gliosis |
Stimulate
|
16516312 |
Gliosis |
Associate
|
18402384, 20578042, 22153404, 22797933, 24269023, 28841900, 28981455, 31321953, 31937580, 35563594, 35951535, 37002988, 37697307 |
Glomerulonephritis Membranous |
Associate
|
26120272 |
Gray Platelet Syndrome |
Associate
|
34109421 |
Hamartoma |
Associate
|
3189513 |
Heat Exhaustion |
Associate
|
33479350 |
Hepatitis C Chronic |
Associate
|
18508359 |
Hepatolenticular Degeneration |
Associate
|
33502774 |
HIV Infections |
Stimulate
|
22875918 |
HIV Infections |
Associate
|
3472222, 36601110 |
Huntington Disease |
Stimulate
|
32070434 |
Huntington Disease |
Associate
|
38569376 |
Hyperkinesis |
Stimulate
|
36769380 |
Hypertension |
Stimulate
|
33734490 |
Hypoxia |
Stimulate
|
22073257 |
Hypoxia |
Associate
|
35335325 |
Hypoxia Brain |
Stimulate
|
16516312 |
Hypoxia Brain |
Associate
|
39290417 |
Immunoglobulin G4 Related Disease |
Stimulate
|
26279003 |
Infarction |
Stimulate
|
24578611 |
Infections |
Associate
|
26637429 |
Inflammation |
Associate
|
21235736, 25329999, 28392295, 35204724 |
Intellectual Disability |
Associate
|
37652704 |
Intestinal Pseudo Obstruction |
Associate
|
31144425 |
Irritable Bowel Syndrome |
Stimulate
|
33797165 |
Leber Congenital Amaurosis |
Stimulate
|
16052170 |
Leukemia Myeloid Acute |
Inhibit
|
27016413 |
Leukodystrophy Metachromatic |
Associate
|
26719496 |
Leukoencephalopathies |
Associate
|
24755947, 36971196 |
Liver Failure Acute |
Inhibit
|
24164438 |
Lymphoma Non Hodgkin |
Associate
|
30393962 |
Macular Degeneration |
Associate
|
12928288 |
Macular Degeneration |
Stimulate
|
38087190 |
Medulloblastoma |
Associate
|
19358275 |
Melanoma |
Stimulate
|
12642316 |
Memory Disorders |
Associate
|
24755947 |
Meningioma |
Associate
|
20235875, 26352988 |
Meningitis Bacterial |
Associate
|
20386697 |
Meningitis Viral |
Associate
|
20386697 |
Mental Disorders |
Associate
|
23272063, 39643430 |
Mental Disorders |
Inhibit
|
31321953 |
Microphthalmia Syndromic 10 |
Associate
|
37500404 |
Mitral Valve Insufficiency |
Associate
|
18388212 |
Mouth Diseases |
Stimulate
|
28707765 |
Mucopolysaccharidosis VII |
Stimulate
|
30413728 |
Multiple Sclerosis |
Stimulate
|
17360586 |
Multiple Sclerosis |
Associate
|
24907905, 31050367, 35204724, 37848007 |
Multiple Sclerosis Relapsing Remitting |
Associate
|
35204724 |
Muscular Atrophy Spinal |
Associate
|
31123861, 35951535 |
Muscular dystrophy congenital with central nervous system involvement |
Associate
|
33502774 |
Myeloproliferative Disorder Chronic with Eosinophilia |
Associate
|
40082225 |
Myoepithelioma |
Associate
|
19668151 |
Neoplasm Metastasis |
Associate
|
29746255 |
Neoplasms |
Associate
|
10193326, 11760389, 12373609, 12580553, 12923349, 12946225, 15861411, 18587711, 18652591, 18691268, 19170683, 19291000, 19668151, 21412926, 21701112, 22198646, 24076776, 24741354, 25310736, 25973126, 26036627, 26045862, 26817999, 28076568, 28481241, 28660986, 28990708, 30285781, 30340515, 30787232, 31263851, 32058355, 32998285, 33208163, 34222466, 34284549, 34355256, 34389065, 34713831, 34716641, 35713454, 35763541, 35859319, 35940591, 36941703, 40725140, 7477684, 8378327 View all (33 more) |
Neoplasms |
Inhibit
|
21075782, 23601182 |
Neoplasms Neuroepithelial |
Associate
|
15677537 |
Neovascularization Pathologic |
Associate
|
38087190 |
Neurilemmoma |
Associate
|
16357842 |
Neurilemmoma |
Stimulate
|
26121316 |
Neurodegenerative Diseases |
Associate
|
30040709, 33027920, 39290417, 39824235 |
Neurodegenerative Diseases |
Stimulate
|
37500404 |
Neuroectodermal Tumors Primitive |
Associate
|
28296680 |
Neuroinflammatory Diseases |
Associate
|
35204724, 37137722 |
Neurotoxicity Syndromes |
Associate
|
20578042 |
Niemann Pick Disease Type C |
Associate
|
28841900 |
Norrie disease |
Stimulate
|
31892365 |
Oculocutaneous albinism type 2 |
Associate
|
25997626 |
Oligodendroglioma |
Associate
|
19934553 |
Optic Nerve Glioma |
Associate
|
25124617 |
Osteosarcoma |
Associate
|
19668151 |
Pain |
Stimulate
|
22875918 |
Parkinson Disease |
Associate
|
31828965 |
Persistent Infection |
Associate
|
35073955 |
Pituitary Diseases |
Associate
|
33001343 |
Pituitary Neoplasms |
Associate
|
28660986, 33001343 |
Plaque Amyloid |
Associate
|
23715664, 24269023 |
Prostatic Neoplasms |
Associate
|
34222466 |
Psychomotor Disorders |
Associate
|
30388417 |
Retinal Diseases |
Associate
|
26279003 |
Retinal Drusen |
Stimulate
|
12928288 |
Retinal Neoplasms |
Associate
|
25837926 |
Retinal Perforations |
Associate
|
27736918 |
Retinitis |
Associate
|
36430950 |
Retinoblastoma |
Associate
|
27488116 |
Rett Syndrome |
Associate
|
24419315 |
Rhabdoid Tumor Predisposition Syndrome 1 |
Associate
|
20925002 |
Schizophrenia |
Associate
|
19405953 |
Schizophrenia |
Stimulate
|
27801899 |
Seizures |
Associate
|
30388417 |
Skin Manifestations |
Stimulate
|
33502774 |
Sleep Wake Disorders |
Stimulate
|
31139831 |
Spasm |
Associate
|
37652704 |
Spasms Infantile |
Associate
|
17043438 |
Spastic Paraplegia Hereditary |
Associate
|
37482941 |
Stroke |
Associate
|
39824235 |
Trauma Nervous System |
Associate
|
22897631 |
Tuberous Sclerosis |
Associate
|
37652704 |
Urinary Bladder Diseases |
Associate
|
39643430 |
Vitreoretinopathy Proliferative |
Associate
|
15156160, 15988409, 28777835 |
Vocal Cord Paralysis |
Associate
|
40043923 |
Vomiting |
Associate
|
22198646, 35831840 |
Weight Loss |
Associate
|
35831840 |
Wounds and Injuries |
Stimulate
|
31417126 |
|