| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs2044880, rs76244632 |
RCV005899570 RCV005905490 |
| Brugada syndrome |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign |
rs1700699549, rs771610382, rs751567318, rs1701049565, rs751063902, rs1156887730, rs374305150, rs775043567, rs2044880, rs775843493, rs934971247, rs762018216, rs761698828, rs1700722701, rs1471870007, rs2125497965, rs900845107, rs1358056076, rs1559583375, rs147773109, rs769668097, rs1700721746, rs142198171, rs72546649, rs753265220, rs1701039817, rs1204498854, rs2125478663, rs528792876, rs151196281, rs759180118, rs746611202, rs2125486240, rs776329795, rs1367336326, rs770011428, rs760328411, rs72546643, rs148643167, rs766273195, rs1053382446, rs766090919, rs1237495167, rs1700699957, rs989262156, rs2125501560, rs1700722155, rs766733448, rs762262112, rs144877595, rs188138719, rs751477655, rs1221530760, rs1220054300, rs765805642, rs2125485247, rs769123169, rs1700540170, rs759219954, rs200273033, rs780858620, rs200045526, rs72552291, rs72552292, rs72552293, rs72552294, rs945877751, rs2125485191, rs2125478719, rs973664942, rs762306432, rs376308565, rs2471396690, rs762654723, rs112122950, rs2471396634, rs747897359, rs1164026987, rs1263963693, rs72558073, rs1321054363, rs375426818, rs145648143, rs771520513, rs1175184800, rs786204216, rs34278284, rs72546650, rs61741845, rs72546648, rs143486835, rs1401141415, rs786205268, rs1700540353, rs182826539, rs1700700235, rs947729061, rs779017611, rs756599276, rs776114036, rs1334490847, rs1391064289, rs375419819, rs1700831211, rs1261937304, rs1317776176, rs2125501486, rs1700699267, rs770457115, rs202047839, rs2471421019, rs768521034, rs1700540035, rs372201783, rs747895103, rs774304068, rs888002540, rs775170888, rs869025436, rs878855004, rs35464343, rs139369157, rs1575125044, rs9835387, rs113645050, rs149641866, rs763662993, rs757125355, rs1700698966, rs762575871, rs1367278510, rs975084458, rs1575111584, rs1341136850, rs72546642, rs758346464, rs1272143753, rs148464224, rs1339927786, rs982730623, rs1227197804, rs886058331, rs2471396560, rs2471405895, rs537616228, rs762919158, rs2471385967, rs2471363778, rs2471420334, rs2471396412, rs758741738, rs2471406045, rs1210347791, rs751879292, rs1171083687, rs139760875, rs374519204, rs1316844789, rs1023071144, rs1700832924, rs1700725470, rs1700170354, rs2471428333, rs2471398778, rs1339582219, rs551255832, rs2471419826, rs991849621, rs568004238, rs200392121, rs146738300, rs1057523126, rs779990114, rs775325609, rs370985609, rs149167213, rs201799095, rs559530222, rs267599768, rs1446434571, rs1042900556, rs373325536, rs1007252272, rs1453406813, rs139494055, rs376724853, rs1553659648, rs375532052, rs148361833, rs1553663699, rs146477959, rs149423659, rs147092668, rs192905901, rs1409253059, rs767661465, rs1553663710, rs780760018, rs72546651, rs1553660781, rs757614405, rs755240955, rs1559565644, rs1216770303, rs1376727184, rs770998550, rs1559579249, rs951273802, rs1559573147, rs745770005, rs72546647, rs980532320, rs764691105, rs201152084, rs545047908, rs753955088, rs189819292, rs1575115586, rs1575103864, rs943929226, rs1700538814, rs1700539904, rs368838349, rs754861753, rs774028756, rs751812984, rs1701139581, rs1700170976, rs377378878, rs1443878552, rs1254946428, rs1700699304, rs765497074, rs1700725665, rs1700832089, rs1332344958, rs767832404, rs369439723, rs1344615515 View all (224 more) |
RCV001319402 RCV001315449 RCV001313803 RCV001323054 RCV001313689 RCV001342115 RCV001342536 RCV001351925 RCV001344855 RCV001347359 RCV001363565 RCV001369108 RCV001365022 RCV001360318 RCV001369225 RCV001366266 RCV001371456 RCV001366650 RCV001362996 RCV001411717 RCV001396910 RCV001399701 RCV001392588 RCV001416523 RCV001401404 RCV001417358 RCV001415026 RCV001430787 RCV001446106 RCV001446524 RCV001432302 RCV001426961 RCV001450359 RCV001483632 RCV001502213 RCV001506021 RCV002538534 RCV002073158 RCV002034476 RCV001966324 RCV001991953 RCV001904404 RCV001953109 RCV001891114 RCV001929940 RCV001942781 RCV001912513 RCV002023415 RCV001940751 RCV000474352 RCV001926511 RCV001899804 RCV001967262 RCV001938042 RCV001974469 RCV001985625 RCV001876514 RCV002140082 RCV002162097 RCV002154168 RCV002143320 RCV002098776 RCV000638732 RCV000793005 RCV001081825 RCV000703528 RCV002160530 RCV002173785 RCV002181478 RCV002202085 RCV002114484 RCV002212766 RCV002304038 RCV002295947 RCV000379441 RCV003099314 RCV003775792 RCV005096488 RCV003096846 RCV003120939 RCV003539424 RCV003098045 RCV003539428 RCV003103302 RCV003100137 RCV005058519 RCV005098373 RCV000168338 RCV000234652 RCV000230276 RCV000234259 RCV000229089 RCV001084739 RCV000553182 RCV003087909 RCV000554514 RCV003085796 RCV003100380 RCV003088495 RCV003100622 RCV002582263 RCV002598771 RCV002605961 RCV002628951 RCV002607875 RCV003107256 RCV002586449 RCV002580659 RCV002588961 RCV002623096 RCV002746679 RCV002785504 RCV002800211 RCV002885476 RCV002899278 RCV002923929 RCV002944175 RCV003005910 RCV001366971 RCV003057533 RCV003062077 RCV002517398 RCV000227582 RCV000230803 RCV003539473 RCV005061091 RCV000279237 RCV000541471 RCV000340059 RCV005061232 RCV003539629 RCV003539677 RCV003540070 RCV003539743 RCV003539726 RCV003540076 RCV003540172 RCV000345655 RCV003540184 RCV003540180 RCV000407103 RCV003540341 RCV003540361 RCV003540468 RCV000371056 RCV000319176 RCV003655430 RCV003655443 RCV000392090 RCV003655572 RCV003655672 RCV003655881 RCV003655845 RCV003655912 RCV003656032 RCV003654522 RCV003654582 RCV003654647 RCV003654625 RCV003654642 RCV003654693 RCV003654757 RCV003654833 RCV003654925 RCV003654868 RCV003654892 RCV003818621 RCV003846502 RCV003844532 RCV003856309 RCV003874783 RCV003882121 RCV003874138 RCV003879308 RCV003880424 RCV000638809 RCV000861814 RCV001410519 RCV001400056 RCV005055994 RCV002521772 RCV001349873 RCV001080916 RCV000460752 RCV000470293 RCV001363343 RCV002527355 RCV001858025 RCV001364366 RCV000527965 RCV000548177 RCV000546502 RCV000554072 RCV000530695 RCV000540109 RCV001087582 RCV000540555 RCV000543303 RCV001347800 RCV000862510 RCV000638759 RCV000638782 RCV001860390 RCV000638761 RCV003767774 RCV001860361 RCV001398393 RCV000638720 RCV000638695 RCV000638714 RCV001861864 RCV000701238 RCV000699546 RCV000690562 RCV000703790 RCV000706078 RCV000692557 RCV001066444 RCV000796091 RCV000812580 RCV000801448 RCV000798258 RCV001362104 RCV002068630 RCV001399191 RCV002067467 RCV000862679 RCV000866163 RCV002539382 RCV001447970 RCV001858872 RCV001053687 RCV001041176 RCV001038364 RCV001052911 RCV001045669 RCV001231252 RCV001235635 RCV001247385 RCV001248611 RCV001243600 RCV001248697 RCV001295968 RCV001302176 RCV001297994 RCV001305147 RCV001302438 RCV001306833 RCV001307200 RCV001308434 |
| Brugada syndrome (shorter-than-normal QT interval) |
Conflicting classifications of pathogenicity |
rs72552291 |
RCV001192631 |
| Brugada syndrome 2 |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs775043567, rs2044880, rs761698828, rs113202696, rs2125498333, rs1053382446, rs766733448, rs144877595, rs188138719, rs72552291, rs72552292, rs72552293, rs72552294, rs112122950, rs34278284, rs771369026, rs774304068, rs35464343, rs113764055, rs370985609, rs201799095, rs1446434571, rs139494055, rs375532052, rs146477959, rs147092668, rs1409253059, rs755240955, rs951273802, rs72546647, rs764691105, rs1575115586, rs943929226, rs754861753, rs774028756 View all (20 more) |
RCV002504565 RCV002486400 RCV002476665 RCV002506710 RCV001787249 RCV002486603 RCV002492379 RCV003114274 RCV002503620 RCV000000822 RCV000000823 RCV000000824 RCV000000825 RCV003224175 RCV002478537 RCV002498860 RCV002494518 RCV001801565 RCV002495975 RCV002502553 RCV002489127 RCV002496779 RCV002506279 RCV002506330 RCV002506329 RCV002491144 RCV002506477 RCV002483721 RCV000678918 RCV001196720 RCV002478889 RCV002477824 RCV002507474 RCV002497310 RCV002505604 RCV005400484 |
| Cardiomyopathy |
Likely benign |
rs72546648 |
RCV000852959 |
| Cardiovascular phenotype |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign |
rs771610382, rs1701049565, rs374305150, rs775043567, rs775843493, rs762018216, rs761698828, rs1700722701, rs900845107, rs1559583375, rs147773109, rs769668097, rs72546649, rs1701039817, rs528792876, rs151196281, rs759180118, rs746611202, rs1367336326, rs148643167, rs766273195, rs1053382446, rs989262156, rs1700722155, rs766733448, rs762262112, rs144877595, rs188138719, rs751477655, rs1221530760, rs1220054300, rs769123169, rs1700540170, rs200273033, rs200045526, rs72552291, rs72552292, rs72552293, rs72552294, rs945877751, rs2125485191, rs973664942, rs762306432, rs376308565, rs112122950, rs2471396634, rs766627054, rs747897359, rs2471396598, rs1700700614, rs1164026987, rs2471405947, rs1263963693, rs72558073, rs17852606, rs2471385951, rs1238120320, rs1321054363, rs2471405899, rs1700831983, rs375426818, rs770011428, rs145648143, rs376724853, rs771520513, rs1175184800, rs2471419825, rs1225282992, rs2471421038, rs147142794, rs775731610, rs1700538578, rs746135922, rs2471386128, rs758346464, rs1700699629, rs2471396555, rs786204216, rs34278284, rs61741845, rs72546648, rs143486835, rs201900323, rs771369026, rs182826539, rs779017611, rs1334490847, rs1391064289, rs754888410, rs1700831211, rs1261937304, rs1317776176, rs202047839, rs1700540035, rs774304068, rs869025436, rs750110247, rs35464343, rs748172518, rs367821903, rs139369157, rs1575125044, rs2125497880, rs2471386019, rs9835387, rs113645050, rs149641866, rs759219954, rs1158767442, rs1360642332, rs763662993, rs760749277, rs1209392273, rs1701048737, rs1224957952, rs765893811, rs1559579197, rs72546642, rs148464224, rs886058332, rs762919158, rs758741738, rs2471406045, rs1700170354, rs2471419809, rs201152084, rs780357018, rs2471420095, rs769778166, rs926477058, rs146738300, rs200392121, rs779990114, rs149167213, rs201799095, rs559530222, rs1446434571, rs1042900556, rs1007252272, rs139494055, rs375532052, rs1553663699, rs146477959, rs149423659, rs147092668, rs1553658277, rs1553659674, rs1553662705, rs192905901, rs1409253059, rs767661465, rs1553663710, rs780760018, rs72546651, rs757614405, rs755240955, rs1216770303, rs1376727184, rs1559579249, rs951273802, rs72546647, rs764691105, rs545047908, rs753955088, rs943929226, rs368838349, rs774028756, rs267599768, rs751812984, rs377378878, rs1254946428, rs765497074, rs1332344958, rs369439723 View all (159 more) |
RCV002438709 RCV002377406 RCV005841781 RCV002329346 RCV006352163 RCV002447483 RCV002368179 RCV002322316 RCV006352220 RCV004629607 RCV002350793 RCV004037774 RCV004038135 RCV004995782 RCV005348513 RCV002350896 RCV003298738 RCV002377683 RCV005348536 RCV002421257 RCV004631875 RCV004045500 RCV005841856 RCV004996076 RCV003161253 RCV004044036 RCV000618147 RCV002370537 RCV002359301 RCV002334916 RCV005572711 RCV002370369 RCV002416489 RCV003161645 RCV004990651 RCV000244771 RCV000618850 RCV000620285 RCV000620875 RCV002416457 RCV003382850 RCV004990607 RCV005343366 RCV005841967 RCV002336342 RCV002324717 RCV002454983 RCV002333391 RCV002375704 RCV002357839 RCV002320708 RCV002339828 RCV002323471 RCV002349647 RCV002347630 RCV002347769 RCV002358205 RCV002335990 RCV002337851 RCV002337926 RCV002335805 RCV002353405 RCV002355693 RCV002360329 RCV002361993 RCV002434801 RCV002371504 RCV002412161 RCV002377956 RCV002385115 RCV002414494 RCV002364816 RCV002382937 RCV002401039 RCV002407664 RCV002421941 RCV002448407 RCV002440036 RCV002435221 RCV002442298 RCV005572278 RCV000619051 RCV000620166 RCV000619031 RCV000244682 RCV000619197 RCV000622222 RCV005572280 RCV004073228 RCV005854425 RCV003162028 RCV005335707 RCV004020146 RCV005854253 RCV004064487 RCV006357448 RCV004064689 RCV003170679 RCV002381699 RCV002363042 RCV004133650 RCV000618996 RCV003171236 RCV003171703 RCV003171704 RCV003171238 RCV004274576 RCV004280989 RCV004280402 RCV000253354 RCV000249427 RCV000251474 RCV003305773 RCV003310913 RCV003310914 RCV003310915 RCV003310916 RCV003310917 RCV003310918 RCV003310919 RCV003382228 RCV003382229 RCV000617771 RCV002392907 RCV005572303 RCV002338500 RCV005844278 RCV004371854 RCV004634328 RCV004992876 RCV004388141 RCV004521818 RCV004521819 RCV004521821 RCV004521822 RCV004521823 RCV004521824 RCV002328913 RCV002429434 RCV003298449 RCV002379407 RCV002455886 RCV000619466 RCV003168997 RCV005841591 RCV002420321 RCV003159803 RCV002341310 RCV002438345 RCV002341309 RCV002384099 RCV002413655 RCV002385944 RCV002395621 RCV000621694 RCV000617565 RCV000621100 RCV000622229 RCV000619221 RCV000621137 RCV000619710 RCV000621253 RCV000620730 RCV002406372 RCV004992429 RCV006342462 RCV006342496 RCV003362894 RCV004026710 RCV002343465 RCV002372281 RCV002440654 RCV003169062 RCV004029242 RCV002408999 RCV002416013 RCV002454066 RCV004030233 RCV004031070 RCV004031408 RCV004521820 RCV002375232 RCV002447231 RCV005841748 RCV002451675 RCV002366139 RCV002402859 |
| Cervical cancer |
-; Benign |
rs6802739, rs76244632 |
RCV005940094 RCV005905492 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs2044880 |
RCV005899572 |
| Death in infancy |
Conflicting classifications of pathogenicity |
rs72552291 |
RCV000234995 |
| Familial prostate cancer |
- |
rs6802739 |
RCV005940095 |
| Gastric cancer |
Benign; - |
rs72558073, rs6802739 |
RCV005889661 RCV005940096 |
| GPD1L-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity |
rs759180118, rs144877595, rs72552291, rs72552293, rs1164026987, rs145648143, rs72546648, rs113764055, rs2044880 |
RCV003892173 RCV003935191 RCV004757091 RCV003952333 RCV003943362 RCV003933764 RCV003937529 RCV003910941 RCV003960095 |
| Hepatocellular carcinoma |
Benign |
rs72558073 |
RCV005889660 |
| Hypertrophic cardiomyopathy |
Conflicting classifications of pathogenicity |
rs72552293 |
RCV000852958 |
| Long QT syndrome |
Conflicting classifications of pathogenicity; Uncertain significance |
rs72552291, rs72552293, rs980532320 |
RCV003318331 RCV000157243 RCV003318386 |
| Lung cancer |
Benign |
rs72558073 |
RCV005889663 |
| Lymphoma |
Benign; Likely benign |
rs2044880 |
RCV005899571 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs113202696, rs76244632 |
RCV005917376 RCV005905491 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs76244632 |
RCV005905494 |
| Primary dilated cardiomyopathy |
Uncertain significance |
rs869025436 |
RCV000208510 |
| Primary familial hypertrophic cardiomyopathy |
Conflicting classifications of pathogenicity |
rs72552293 |
RCV000157243 |
| Sarcoma |
Benign |
rs72546656, rs76244632 |
RCV005903879 RCV005905493 |
| Schizophrenia |
Uncertain significance |
rs2471388459 |
RCV002463476 |
| Sudden cardiac death |
Conflicting classifications of pathogenicity |
rs112122950 |
RCV000157244 |
| SUDDEN INFANT DEATH SYNDROME |
Conflicting classifications of pathogenicity |
rs72552293 |
RCV000029945 |
| Thymoma |
Benign |
rs72546656, rs76244632 |
RCV005903880 RCV005905495 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs72558073 |
RCV005889662 |
| Uterine carcinosarcoma |
- |
rs6802739 |
RCV005940097 |
| Uterine corpus endometrial carcinoma |
-; Benign |
rs6802739, rs72546656 |
RCV005940098 RCV005903881 |
| Wolff-Parkinson-White pattern |
Uncertain significance |
rs146477959 |
RCV000656171 |
|