| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Amenorrhea |
Uncertain significance |
rs145249878 |
RCV001849448 |
| Cervical cancer |
Benign; Likely benign |
rs142204796 |
RCV005893637 |
| Dilated cardiomyopathy 1A |
Conflicting classifications of pathogenicity |
rs2116916386 |
RCV002259536 |
| Hypogonadotropic hypogonadism 5 with or without anosmia |
Conflicting classifications of pathogenicity |
rs121918341, rs147614840 |
RCV004584592 RCV004585063 |
| Hypogonadotropic hypogonadism 7 with or without anosmia |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign |
rs370543242, rs143423970, rs140160399, rs145267516, rs1284168796, rs140094033, rs146635766, rs2115581814, rs765517064, rs150833995, rs773688938, rs371994521, rs747326285, rs1027331615, rs373711827, rs763045418, rs965528935, rs773917768, rs372156795, rs780025635, rs769637710, rs369202554, rs766680673, rs371322188, rs376833826, rs373951907, rs375211355, rs200779956, rs142204796, rs145707650, rs148649507, rs752718717, rs186628513, rs111300014, rs771976054, rs768818178, rs1246755098, rs748722795, rs1293541067, rs574901886, rs757610572, rs143878781, rs192697566, rs144608744, rs1370491845, rs181129823, rs375536813, rs61729605, rs753965043, rs546414937, rs1429296509, rs558904762, rs1788311962, rs1378507372, rs768606535, rs373965521, rs201772961 View all (42 more) |
RCV002476603 RCV002499761 RCV002486508 RCV002499766 RCV002499864 RCV002499848 RCV002502003 RCV002506818 RCV002490127 RCV002503586 RCV002484497 RCV002503607 RCV002490153 RCV002479567 RCV002478100 RCV002490124 RCV002479483 RCV002486717 RCV002507625 RCV002490247 RCV002486574 RCV002498283 RCV002508037 RCV002507905 RCV002508043 RCV002494398 RCV002494330 RCV002494058 RCV002503797 RCV005392637 RCV005398788 RCV002506305 RCV002483791 RCV002485702 RCV002477608 RCV002487688 RCV002501050 RCV002501100 RCV002487658 RCV002501186 RCV002501283 RCV002495261 RCV002501302 RCV002495274 RCV002487902 RCV002495319 RCV002505524 RCV002497423 RCV002479243 RCV002479233 RCV002497360 RCV002482021 RCV001197562 RCV002491691 RCV002497775 RCV002484340 RCV002499585 |
| Inflammatory bowel disease |
Uncertain significance |
rs1268026769 |
RCV005255543 |
| Isolated anophthalmia-microphthalmia syndrome |
Uncertain significance |
rs951273822 |
RCV003389609 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs765143049, rs186628513 |
RCV005936765 RCV005900148 |
| Melanoma |
Uncertain significance |
rs752718717 |
RCV005901327 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs142204796 |
RCV005893639 |
| Sarcoma |
Benign; Likely benign |
rs142204796 |
RCV005893638 |
| SEMA3E-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign |
rs370543242, rs140160399, rs764562322, rs142392597, rs145267516, rs533306215, rs140094033, rs757094477, rs564120268, rs375209449, rs199840463, rs1788369340, rs201699077, rs754158945, rs747349269, rs996184916, rs763424945, rs1445294085, rs965528935, rs745626807, rs773688938, rs750426538, rs778519947, rs371994521, rs900496407, rs747326285, rs758060734, rs1027331615, rs779163443, rs773917768, rs761147897, rs780025635, rs2115880845, rs2116892550, rs766680673, rs370540865, rs1788369989, rs769133097, rs200779956, rs776317078, rs2116916386, rs534303369, rs371604308, rs754284987, rs747116916, rs201425495, rs1219343700, rs112772585, rs201719889, rs1390059630, rs140291139, rs777600869, rs1015201578, rs939171816, rs201160682, rs887159344, rs1794697965, rs779609772, rs1431836894, rs762483567, rs759436104, rs919228737, rs143631464, rs777108802, rs2484247385, rs2484313722, rs1475517940, rs2484317738, rs2484246813, rs2484321067, rs778141353, rs2484341132, rs2484305949, rs776644269, rs2484300286, rs138211552, rs772478336, rs371092782, rs746701899, rs766002060, rs529826573, rs763457095, rs755671622, rs745937682, rs1787855789, rs779652369, rs773103107, rs147614840, rs776525589, rs539156422, rs573523060, rs375802700, rs2484488056, rs200714352, rs2484246871, rs2484279165, rs371960755, rs765143049, rs1017152655, rs1367877741, rs1366882310, rs376834739, rs1788207252, rs980366137, rs2484310463, rs533333034, rs2484444345, rs755367359, rs765040215, rs148649507, rs144370841, rs752718717, rs756513699, rs752774852, rs746431820, rs781381659, rs375067711, rs111300014, rs771976054, rs768818178, rs1246755098, rs1327334624, rs754754690, rs748722795, rs1293541067, rs145249878, rs201465097, rs200688368, rs372840645, rs757610572, rs190791287, rs148072082, rs1584267738, rs142305186, rs560983031, rs181129823, rs758897440, rs148264760, rs769859383, rs146189665, rs767115234, rs61729605, rs753965043, rs546414937, rs763295904, rs894551746, rs768606535, rs149235216, rs759100269, rs781593656, rs373965521, rs553630404 View all (137 more) |
RCV003405581 RCV003416260 RCV004746345 RCV003399163 RCV004746357 RCV003953701 RCV003953723 RCV003900475 RCV004746388 RCV003965843 RCV004746407 RCV003921036 RCV003966175 RCV003921222 RCV003407799 RCV004746449 RCV004746451 RCV003401827 RCV003941208 RCV003913436 RCV003968631 RCV004746487 RCV004729026 RCV003892184 RCV003416517 RCV004746490 RCV003913484 RCV003923389 RCV004746474 RCV004746585 RCV004746555 RCV004746502 RCV004746470 RCV003403652 RCV004747047 RCV004747037 RCV003973323 RCV004746594 RCV003893138 RCV004747065 RCV004729119 RCV003916718 RCV003906457 RCV004747189 RCV004747192 RCV003953869 RCV003943762 RCV003918923 RCV003892213 RCV004725643 RCV003963338 RCV003963356 RCV004747129 RCV004747137 RCV004747140 RCV004747146 RCV003973554 RCV004747163 RCV004747164 RCV003963509 RCV003973603 RCV003973606 RCV003430768 RCV003412035 RCV003391410 RCV003416815 RCV003419255 RCV003402382 RCV003405967 RCV003427932 RCV003410629 RCV003394425 RCV003403106 RCV003420737 RCV003399956 RCV003418771 RCV003394338 RCV004747308 RCV004747306 RCV004747307 RCV003946729 RCV004723378 RCV003901221 RCV004747333 RCV004723422 RCV004747345 RCV003893320 RCV004747360 RCV004747366 RCV003981112 RCV003893427 RCV004747378 RCV003893436 RCV004747382 RCV004747408 RCV003982597 RCV003982617 RCV003983351 RCV003896294 RCV003894452 RCV003901821 RCV003939847 RCV003942069 RCV003962155 RCV003971924 RCV003972109 RCV003941375 RCV003946977 RCV003952328 RCV003897836 RCV003915504 RCV003962481 RCV003403269 RCV003965323 RCV003392473 RCV004745541 RCV003980321 RCV003918138 RCV004745555 RCV003420245 RCV003424347 RCV004745589 RCV003411747 RCV003411790 RCV004745602 RCV004745587 RCV003424345 RCV003908100 RCV003983221 RCV004745619 RCV003938288 RCV003918380 RCV003908235 RCV003895307 RCV003955644 RCV004745626 RCV003967924 RCV003895347 RCV004746117 RCV004746158 RCV003970553 RCV003945787 RCV003963016 RCV003953435 RCV004746202 RCV003413844 RCV004746235 RCV003918787 RCV003898213 RCV003963135 RCV003393912 RCV003405442 RCV003908510 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs142204796 |
RCV005893640 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs142204796 |
RCV005893641 |
|