| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Uncertain significance |
rs12356533, rs750396182, rs875989812, rs147857449 |
RCV005920155 RCV005893900 RCV005893905 RCV005891828 |
| Arrhythmogenic right ventricular cardiomyopathy |
Conflicting classifications of pathogenicity |
rs773215003 |
RCV000852429 |
| Autism spectrum disorder |
Uncertain significance |
rs760538597 |
RCV000656707 |
| Brugada syndrome |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs150528041, rs149253719, rs149793143, rs143326262, rs144182966, rs373932682, rs750396182, rs875989812, rs758274878, rs886046892, rs886046898, rs547804393, rs367928065, rs752637408, rs886046899, rs886046902, rs528559406, rs886046891, rs564407056, rs780734976, rs1554843746, rs886046886, rs886046887, rs753335762, rs34551674, rs117558767, rs10828545, rs202152674, rs775466397, rs1064795457, rs781646326 View all (16 more) |
RCV000148448 RCV000852600 RCV000148452 RCV000148450 RCV000148451 RCV000590907 RCV000211477 RCV000211519 RCV000390587 RCV000275854 RCV000340972 RCV000266499 RCV000329978 RCV000342052 RCV000292032 RCV000356045 RCV000354385 RCV000363056 RCV000397009 RCV000263604 RCV000297165 RCV000375277 RCV000336097 RCV000406364 RCV000313836 RCV000344277 RCV000324332 RCV000360405 RCV000417288 RCV000590945 RCV000509348 RCV000678782 |
| CACNB2-related disorder |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs769211879, rs766267727, rs34813638, rs61733967, rs150528041, rs143326262, rs777478383, rs786205787, rs150722502, rs138060429, rs77141223, rs1241974896, rs2494909383, rs71402148, rs370040046, rs148414498, rs368473992, rs570005089, rs931745771 View all (4 more) |
RCV003941087 RCV003403662 RCV003975098 RCV003975099 RCV004745214 RCV004745215 RCV003395574 RCV003398878 RCV003937528 RCV003907537 RCV003907536 RCV003416773 RCV003896573 RCV003917041 RCV003917152 RCV003958954 RCV003970363 RCV003965737 RCV003940482 RCV003895764 |
| Cardiac arrest |
Conflicting classifications of pathogenicity; Uncertain significance |
rs200174877, rs730880059, rs869025371 |
RCV000157132 RCV000157131 RCV000208041 |
| Cardiac arrhythmia |
Benign; Conflicting classifications of pathogenicity |
rs1554759973, rs1456201116 |
RCV001842509 RCV001842515 |
| Cardiomyopathy |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs150528041, rs137886839, rs142639223, rs61733968 |
RCV000852599 RCV000852602 RCV000852603 RCV000852604 |
| Cardiovascular phenotype |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign |
rs768218683, rs1344965960, rs140542975, rs889646922, rs148414498, rs142735478, rs1157722971, rs538160664, rs1348268646, rs1164299168, rs375218580, rs772796787, rs2132070434, rs571930944, rs1212860668, rs1260592132, rs774536008, rs149167651, rs1388696673, rs758349246, rs182163363, rs371985646, rs1226944672, rs748311933, rs143060134, rs34022725, rs1045331277, rs2133333288, rs766267727, rs548428286, rs760811952, rs764111314, rs2133325170, rs139749312, rs1412805204, rs34813638, rs150280879, rs61733967, rs58225473, rs747480172, rs762715765, rs2133284616, rs753259405, rs779536902, rs541253552, rs1169230473, rs773650491, rs1564678668, rs750627674, rs376636577, rs2041210092, rs763107822, rs760606646, rs1414134597, rs199908591, rs769870567, rs199847834, rs1357911128, rs754860454, rs1173334982, rs1472987021, rs2228646, rs774096122, rs1294783650, rs755781519, rs2133324424, rs200367454, rs150528041, rs149253719, rs149793143, rs143326262, rs144182966, rs730880058, rs200174877, rs730880059, rs2494363496, rs140504529, rs778466195, rs757975540, rs200452448, rs2494875282, rs2494364003, rs2494364290, rs2494422959, rs2492648869, rs368771848, rs1810112746, rs924496092, rs2494876493, rs148305193, rs2494510360, rs537573375, rs1469090939, rs2493267918, rs1387010315, rs2494510603, rs749249437, rs1286624114, rs2494562845, rs1564656059, rs2052614737, rs945280664, rs2052615187, rs916556534, rs2493267485, rs1007456025, rs375029614, rs759185685, rs770240868, rs112164873, rs368230570, rs869025370, rs1305784565, rs149276594, rs1231445300, rs551742573, rs146623389, rs375812009, rs760396780, rs371232673, rs1554840820, rs2494778626, rs776048113, rs2494906725, rs1165674804, rs201553205, rs754378411, rs747168096, rs766003529, rs771011929, rs1564678544, rs777607595, rs1554843193, rs1318411856, rs2494778786, rs2494879992, rs770400596, rs865848155, rs774231919, rs778403888, rs747733907, rs747741084, rs2494911578, rs369433630, rs2494918844, rs2494924821, rs370955038, rs1937338769, rs2494908232, rs779925106, rs2494910754, rs750387227, rs145886836, rs772911828, rs1554843249, rs141440905, rs2494880539, rs2494913933, rs775467558, rs367619172, rs1554843232, rs2494923053, rs755941070, rs780714212, rs761564584, rs2494327132, rs2494327554, rs936451598, rs1420256596, rs147650257, rs764008396, rs2494819785, rs2053933764, rs1237861204, rs761542420, rs149586418, rs552868927, rs560020203, rs759958799, rs138060429, rs184280124, rs137886839, rs202218948, rs142639223, rs61733968, rs786205786, rs77141223, rs752490047, rs1456201116, rs769096823, rs756238320, rs138423466, rs903062527, rs757266593, rs773177755, rs1246778314, rs2041208121, rs766100830, rs780134367, rs763455333, rs946681094, rs1046365611, rs1457463158, rs886039055, rs2031499779, rs2494819378, rs76956014, rs878855310, rs2494776831, rs1564644091, rs1554810585, rs1564677253, rs371841055, rs1220629347, rs762313820, rs1394245088, rs2053922748, rs2494510018, rs121917812, rs2228645, rs779134360, rs886038827, rs151199943, rs148638262, rs2053330900, rs765228223, rs2494907173, rs775838783, rs2494684931, rs2052613698, rs2494778707, rs2494777916, rs1206230612, rs1362502929, rs2494362832, rs748909992, rs769914961, rs1363371032, rs771856157, rs745502425, rs2494921893, rs2494920151, rs758934103, rs773534767, rs770636823, rs2494818009, rs2494327802, rs2494327249, rs1564509158, rs1177444505, rs2494571580, rs2053795027, rs780180841, rs2053335424, rs775896337, rs200654601, rs781283574, rs564275776, rs34503140, rs144509796, rs546669133, rs745337273, rs111250176, rs2494922271, rs752103852, rs780368829, rs781777170, rs2494820392, rs768715677, rs2053808617, rs777853455, rs2494913678, rs1017388215, rs1416633354, rs954616909, rs2494362634, rs142159936, rs780755312, rs1209597048, rs2494422836, rs2494423068, rs2050497087, rs1282703087, rs2494685402, rs2053332142, rs202152674, rs1057524620, rs765944934, rs145638628, rs767341738, rs1060499847, rs1060503435, rs775466397, rs772752419, rs1060504914, rs778426010, rs1060504915, rs148674271, rs1039406883, rs545095722, rs754596850, rs771565696, rs766377211, rs151274272, rs1336353571, rs144461906, rs780045364, rs1401122407, rs764050459, rs775556040, rs149330185, rs369696287, rs762796116, rs1317419789, rs375425461, rs767304274, rs748585975, rs769682775, rs750015594, rs374454040, rs1554831400, rs561197163, rs368505003, rs191856144, rs373826838, rs994878062, rs144367884, rs748906162, rs369543094, rs747015946, rs781646326, rs578106427, rs199714857, rs145885745, rs1564509094, rs747658821, rs140614930, rs371859398, rs544535665, rs773215003, rs756710473, rs773373763, rs753506761, rs377767054, rs770364083, rs1213446253, rs764828520, rs755387775, rs570005089, rs931745771, rs377657305, rs749782217, rs1589754703, rs772557073, rs1339855749, rs771875189, rs1217728234, rs577739840, rs931370978, rs532262049, rs571637787, rs370475450, rs2052613832, rs935123934, rs780208478 View all (350 more) |
RCV002412001 RCV003166846 RCV002350603 RCV002366187 RCV002322256 RCV002402922 RCV002438819 RCV004995699 RCV005306424 RCV005792096 RCV002404839 RCV004995722 RCV002404974 RCV002395952 RCV002358904 RCV005792125 RCV002404950 RCV002341919 RCV004995803 RCV002449230 RCV002414093 RCV002432300 RCV002405104 RCV002324104 RCV002384863 RCV002405269 RCV002397964 RCV002386772 RCV004044796 RCV002397793 RCV002388796 RCV002386670 RCV002386795 RCV002334786 RCV005804330 RCV000621934 RCV000241586 RCV000620127 RCV000253056 RCV002407049 RCV002398095 RCV005308629 RCV003170304 RCV002425318 RCV002422998 RCV002388759 RCV004996056 RCV003303294 RCV002343984 RCV002425164 RCV004996075 RCV002391340 RCV002454520 RCV005535288 RCV002363618 RCV005535302 RCV002407327 RCV004990666 RCV004045807 RCV002363680 RCV002398253 RCV002391359 RCV002409551 RCV002361463 RCV002363678 RCV005308745 RCV000245027 RCV000617381 RCV000619766 RCV002354336 RCV000251462 RCV000619292 RCV002372024 RCV000243739 RCV002390371 RCV002454919 RCV002454923 RCV002346749 RCV002321275 RCV002333716 RCV002332116 RCV002457010 RCV002357655 RCV002323482 RCV002333959 RCV002335297 RCV002335389 RCV002338619 RCV002349532 RCV002340488 RCV002340523 RCV002347406 RCV002347468 RCV002335705 RCV002346773 RCV002340892 RCV002359652 RCV002360035 RCV002360131 RCV002370962 RCV002416915 RCV002373640 RCV002449773 RCV002373724 RCV002450045 RCV002371241 RCV002378429 RCV002409983 RCV002427986 RCV002378729 RCV002378767 RCV002385365 RCV002367352 RCV002384938 RCV002385093 RCV002421357 RCV002376281 RCV002385189 RCV002385194 RCV002385201 RCV002367148 RCV002371606 RCV002443404 RCV002387209 RCV002383059 RCV002383388 RCV002383540 RCV002392666 RCV002398317 RCV002398516 RCV002398573 RCV002403836 RCV002395126 RCV002395130 RCV002401459 RCV002376861 RCV002387347 RCV002387358 RCV002382858 RCV002385842 RCV002389237 RCV002389525 RCV002389531 RCV002389555 RCV002397080 RCV002397195 RCV002405633 RCV002395054 RCV002410099 RCV002410117 RCV002385441 RCV002389087 RCV002389135 RCV002394725 RCV002396756 RCV002406261 RCV002398930 RCV002398981 RCV002404086 RCV002380730 RCV002380860 RCV002400815 RCV002414518 RCV002405992 RCV002407625 RCV002401621 RCV002428438 RCV002457836 RCV002426221 RCV002437133 RCV002430688 RCV002429065 RCV002439357 RCV002435475 RCV002437835 RCV002435635 RCV002435931 RCV004992465 RCV005535516 RCV002336397 RCV000617740 RCV002381544 RCV002453580 RCV000620970 RCV000244354 RCV000618110 RCV000245105 RCV002399605 RCV002399604 RCV002399606 RCV002399607 RCV002408738 RCV000620280 RCV004071769 RCV002399613 RCV000619181 RCV003377902 RCV004992566 RCV000248968 RCV004990862 RCV004990858 RCV004067976 RCV004990874 RCV003375704 RCV004065968 RCV004603246 RCV002444814 RCV003170688 RCV004068661 RCV004129693 RCV004117197 RCV004144757 RCV004140811 RCV004160455 RCV004168995 RCV000249791 RCV000620776 RCV005532610 RCV000243143 RCV003168039 RCV003176646 RCV003176647 RCV003168040 RCV003176648 RCV003168041 RCV003168042 RCV003168043 RCV003176649 RCV003168044 RCV003176651 RCV004269519 RCV002390101 RCV000250713 RCV000250537 RCV000244767 RCV000254060 RCV000253796 RCV000247502 RCV000249316 RCV004283713 RCV004308840 RCV004318449 RCV003296808 RCV003296809 RCV003296810 RCV003296811 RCV003296812 RCV003296813 RCV003296814 RCV003296815 RCV003296816 RCV003296817 RCV003296818 RCV003296819 RCV003295976 RCV003305406 RCV004344497 RCV004356062 RCV004356704 RCV003379940 RCV003379941 RCV003379942 RCV003379937 RCV003379938 RCV003379939 RCV004360434 RCV004992605 RCV005794561 RCV005311046 RCV004992764 RCV006347829 RCV004021473 RCV000620453 RCV002402015 RCV002411192 RCV002450849 RCV000620685 RCV002392834 RCV002402016 RCV002446549 RCV004992169 RCV004432352 RCV004432353 RCV004432354 RCV004432355 RCV004520340 RCV004520341 RCV004520342 RCV004520343 RCV004520344 RCV004520345 RCV004520346 RCV004520347 RCV004520348 RCV004520349 RCV004520350 RCV004520351 RCV004520352 RCV004520353 RCV004520354 RCV004520355 RCV004520356 RCV004520357 RCV004520358 RCV004520359 RCV004520360 RCV004520361 RCV000619934 RCV005532651 RCV000618277 RCV002339105 RCV002379406 RCV003168714 RCV004022884 RCV000619640 RCV004023086 RCV000618611 RCV005306033 RCV002402365 RCV002374811 RCV002323810 RCV005318400 RCV002374812 RCV003298504 RCV000621687 RCV002431394 RCV002395156 RCV002395141 RCV002402382 RCV002438200 RCV000619491 RCV002395423 RCV002413575 RCV002413574 RCV004024095 RCV002367890 RCV002456360 RCV002395568 RCV000621914 RCV000621398 RCV000622006 RCV000618286 RCV000618417 RCV000621837 RCV000617349 RCV000617222 RCV000617371 RCV000620178 RCV000619434 RCV005791912 RCV002422348 RCV002397260 RCV002406418 RCV002386080 RCV002397259 RCV002397258 RCV002369717 RCV002397261 RCV005306112 RCV002449052 RCV002369809 RCV003303160 RCV002388284 RCV005306131 RCV002386233 RCV002440555 RCV002406597 RCV002406767 RCV004994051 RCV005791951 RCV002453932 RCV002332762 RCV002390758 RCV002416012 RCV002372440 RCV002381932 RCV002453988 RCV003307639 RCV003307647 RCV003169188 RCV002346048 RCV004994151 RCV002391042 RCV002400147 RCV004994174 RCV004994908 RCV002391068 RCV004994189 RCV003160538 RCV002400227 RCV002400217 RCV002451402 RCV004033811 RCV003294020 RCV004032539 RCV002379864 RCV002393563 RCV002402765 RCV002402788 RCV004036357 RCV004034138 RCV003166711 |
| Cholangiocarcinoma |
Benign; Uncertain significance |
rs12357063, rs12356533, rs74120235, rs750396182, rs10741089 |
RCV005915774 RCV005920159 RCV005890597 RCV005893903 RCV005905471 |
| Colorectal cancer |
Benign |
rs74120235 |
RCV005890594 |
| Conduction system disorder |
Uncertain significance |
rs869025370 |
RCV000208390 |
| Early repolarization associated with ventricular fibrillation |
Conflicting classifications of pathogenicity |
rs149253719 |
RCV000148449 |
| Familial cancer of breast |
Benign; Uncertain significance |
rs12357063, rs750396182, rs875989812 |
RCV005915770 RCV005893899 RCV005893904 |
| Gastric cancer |
Benign; Uncertain significance |
rs12356533, rs750396182, rs875989812 |
RCV005920157 RCV005893901 RCV005893908 |
| Hypertrophic cardiomyopathy |
Uncertain significance; Benign; Conflicting classifications of pathogenicity |
rs761564584, rs61733968, rs199539261, rs145638628 |
RCV005356130 RCV000852604 RCV005355787 RCV005355788 |
| Long QT syndrome |
Conflicting classifications of pathogenicity |
rs149253719, rs143326262, rs1456201116 |
RCV003318351 RCV003318352 RCV000208344 |
| Lung cancer |
Benign |
rs12356533 |
RCV005920160 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs12357063, rs4485000 |
RCV005915771 RCV005894400 |
| Malignant tumor of esophagus |
Benign; Uncertain significance; - |
rs12356533, rs875989812, rs886046894, rs10741089 |
RCV005920156 RCV005893906 RCV006038737 RCV005905468 |
| Paroxysmal familial ventricular fibrillation |
Conflicting classifications of pathogenicity |
rs200367454 |
RCV000148447 |
| Primary dilated cardiomyopathy |
Benign; Uncertain significance |
rs61733968, rs1336353571 |
RCV000852604 RCV000498925 |
| Sarcoma |
Benign; Uncertain significance |
rs74120235, rs875989812, rs10741089 |
RCV005890595 RCV005893907 RCV005905469 |
| Short QT Syndrome 5 |
Benign; Uncertain significance |
rs74120235, rs367619172 |
RCV000415639 RCV000415682 |
| Sudden unexplained death |
Conflicting classifications of pathogenicity; Uncertain significance |
rs200367454, rs1339855749 |
RCV000999569 RCV000999612 |
| Supraventricular tachycardia |
Benign |
rs61733968 |
RCV000852604 |
| Thymoma |
Benign; Uncertain significance |
rs12357063, rs12356533, rs74120235, rs750396182, rs10741089 |
RCV005915773 RCV005920158 RCV005890596 RCV005893902 RCV005905470 |
| Uterine carcinosarcoma |
Benign |
rs12357063 |
RCV005915772 |
| Uterine corpus endometrial carcinoma |
Benign |
rs12357063, rs12356533, rs74120235, rs10741089 |
RCV005915775 RCV005920161 RCV005890598 RCV005905472 |
| Ventricular fibrillation |
Uncertain significance; Conflicting classifications of pathogenicity |
rs730880058, rs374465425 |
RCV000157130 RCV000208153 |
| Ventricular tachycardia |
Conflicting classifications of pathogenicity; Benign |
rs143326262, rs61733968 |
RCV000852601 RCV000852604 |
|