| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant pseudohypoaldosteronism type 1 |
Uncertain significance; Benign; Likely benign |
rs761666161, rs886056865, rs35295928, rs545095749, rs10695175, rs886056863, rs566135029 |
RCV000401194 RCV000393063 RCV000293916 RCV000300454 RCV000393086 RCV000349488 RCV000296705 RCV000330075 |
| Pseudohypoparathyroidism type 1B |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs781763936, rs371863588, rs775032938, rs370006614, rs921011114, rs754524705, rs2516022199, rs115536505, rs151312981, rs749300349, rs149351460, rs886056843, rs368572667, rs139859128, rs115046538, rs138647604, rs2296524, rs41276952, rs114786310, rs202102691, rs886056849, rs886056854, rs750137163, rs565168524, rs73302110, rs148109645, rs886056860, rs779563360, rs111631847, rs886056861, rs185815575, rs75424783, rs192204838, rs886056869, rs6026428, rs148071494, rs886056845, rs141733765, rs142560013, rs533111939, rs41276950, rs1052642, rs886056856, rs6128397, rs145827696, rs141875151, rs147429412, rs886056864, rs886056866, rs886056867, rs76626612, rs886056842, rs190719996, rs41296203, rs886056844, rs41296205, rs181473720, rs73598392, rs147137636, rs185111037, rs886056847, rs191638951, rs765639298, rs886056851, rs886056852, rs886056855, rs532426531, rs186800651, rs886056858, rs11578, rs115404291, rs139818778, rs886056862, rs189786439, rs188362833, rs886056841, rs886056846, rs886056848, rs114597931, rs886056850, rs559176715, rs886056857, rs886056859, rs138678203, rs7683, rs886056868, rs141068956, rs146333716, rs148962992, rs567647430, rs1018502247, rs557592494, rs368579447, rs759176630, rs759831553, rs116490884, rs756954719, rs188308261, rs1031420787, rs2084118222, rs766728803, rs145140409, rs571571425, rs1192979707, rs980469101, rs1032502684, rs933579094, rs1488875431, rs879449362, rs757085474, rs2084170375, rs893623188, rs140662326, rs150647186, rs543577961, rs2084183470, rs78816069, rs577869699, rs535827417, rs1027698811, rs886086537, rs559654103, rs2084203495, rs1276361785, rs536513007, rs528651545, rs769976417, rs2084217748, rs148669648, rs142088857 View all (115 more) |
RCV005038122 RCV005038121 RCV005034654 RCV005027956 RCV005036852 RCV005030254 RCV003990902 RCV005038683 RCV005038684 RCV005023538 RCV000373969 RCV000296561 RCV000307996 RCV000321261 RCV000262733 RCV000280288 RCV000332957 RCV000388897 RCV000292251 RCV000291165 RCV000342710 RCV000386908 RCV000341743 RCV000379967 RCV000340213 RCV000274184 RCV000365155 RCV000382526 RCV000377104 RCV000285004 RCV000279185 RCV000361149 RCV000319835 RCV000374406 RCV000282745 RCV000334544 RCV000309301 RCV000366315 RCV000268540 RCV000319973 RCV000372356 RCV000263427 RCV000381000 RCV000313463 RCV000370509 RCV000312898 RCV000319038 RCV000362207 RCV000304097 RCV000268338 RCV000323420 RCV000281742 RCV000401873 RCV000349157 RCV000392999 RCV000392989 RCV000360413 RCV000359761 RCV000349407 RCV000398773 RCV000391187 RCV000303498 RCV000355915 RCV000354633 RCV000276364 RCV000328981 RCV000282808 RCV000399462 RCV000334449 RCV000325558 RCV000324452 RCV000376010 RCV000336557 RCV000309865 RCV000354854 RCV000321471 RCV000343736 RCV000304168 RCV000391193 RCV000297545 RCV000271521 RCV000289142 RCV000392781 RCV000272951 RCV000267008 RCV000259945 RCV002495350 RCV001137592 RCV002495501 RCV001139711 RCV001139712 RCV001140478 RCV001140479 RCV001142332 RCV001142333 RCV001137590 RCV001137591 RCV001139816 RCV001139817 RCV001139818 RCV001140592 RCV001140593 RCV001142447 RCV001142448 RCV001142449 RCV001142450 RCV001137701 RCV001137702 RCV001137703 RCV001137704 RCV001139927 RCV001139928 RCV001139929 RCV001140689 RCV001140690 RCV001142566 RCV001142567 RCV001137819 RCV001137820 RCV001137821 RCV001140055 RCV001140056 RCV001140810 RCV001140811 RCV001140812 RCV001140813 RCV001142660 RCV001142661 RCV001142662 RCV001142663 |
| STX16-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs960434917, rs768436138, rs202102691 |
RCV003392820 RCV003947045 RCV004755888 |
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Drug Induced |
Associate |
35859320 |
| Alzheimer Disease |
Associate |
28084650, 28711660 |
| Autism Spectrum Disorder |
Associate |
27404287 |
| Calcium Metabolism Disorders |
Associate |
34477200 |
| Gastrointestinal Stromal Tumors |
Associate |
25987131 |
| Heart Failure |
Associate |
35128826 |
| Obesity |
Associate |
28453643 |
| Pseudohypoaldosteronism |
Associate |
25603460, 25997889, 28084650, 33247854, 34477200, 34791361 |
| Pseudohypoparathyroidism |
Associate |
15800843, 20538864, 20965295, 21062889, 23087324, 24438374, 25843330, 26819647, 33247854, 34477200, 39894498 |
| Pseudohypoparathyroidism Type 1B |
Associate |
21062889, 28453643, 34157100, 39894498 |
| Pseudohypoparathyroidism Type 1B |
Inhibit |
35859320 |
| Sleep Deprivation |
Associate |
24194869 |
|