| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Caudal regression sequence |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs121918218, rs3841008, rs138659832, rs886045118, rs752251154, rs886045144, rs886045147, rs886045148, rs886045116, rs746915495, rs886045124, rs75064936, rs762453158, rs778860160, rs144395099, rs144489409 View all (1 more) |
RCV000001411 RCV002469106 RCV002469109 RCV002469102 RCV002469107 RCV002469111 RCV002469114 RCV002469115 RCV002469101 RCV002469104 RCV002469105 RCV002469112 RCV002469113 RCV002469103 RCV002469108 RCV002469110 |
| Germ cell tumor of testis |
Benign |
rs12145661 |
RCV005923480 |
| Glioma susceptibility 1 |
Uncertain significance |
rs770589524 |
RCV005930883 |
| Keratoconus |
Uncertain significance |
rs1202230056 |
RCV000678665 |
| Neural tube defect |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
rs142594314, rs34768472, rs761123443, rs116216703, rs368722418, rs370321176, rs193075321, rs886045122, rs886045123, rs3841008, rs117337677, rs886045130, rs146730302, rs540290490, rs114921471, rs886045135, rs10923204, rs886045136, rs76160883, rs74117023, rs138659832, rs886045145, rs886045146, rs886045150, rs181588954, rs559438343, rs886045118, rs201840785, rs4839469, rs190792695, rs41310108, rs3811012, rs75277108, rs546423374, rs150705915, rs886045126, rs114033235, rs886045129, rs41299571, rs3811008, rs61732170, rs752251154, rs187286147, rs886045138, rs886045142, rs886045144, rs75064936, rs142497673, rs886045147, rs886045148, rs886045149, rs536289395, rs886045116, rs191609592, rs34059106, rs746915495, rs886045121, rs3811011, rs6700610, rs41312690, rs546932643, rs886045124, rs3204955, rs886045127, rs886045128, rs3811010, rs746455152, rs74117021, rs188964296, rs148944333, rs12121158, rs886045134, rs143712039, rs4839472, rs886045139, rs868558700, rs762453158, rs868196412, rs886045117, rs181583261, rs867892644, rs781010619, rs561312836, rs886045119, rs778860160, rs140485834, rs3811013, rs41299565, rs562969850, rs886045125, rs149888685, rs886045152, rs886045153, rs886045131, rs886045132, rs886045133, rs746958675, rs144395099, rs886045143, rs144489409, rs751663783, rs549041171, rs192325588, rs184708484, rs886045151, rs2464782732, rs143196463, rs141673853, rs200389969, rs41275546, rs79828493, rs186509771, rs140451005, rs146695372, rs148341022, rs563855412, rs575493003, rs61734296, rs78535164, rs146723580, rs759094384, rs577862345, rs771534557, rs201698322, rs555914402, rs868487713, rs145309218, rs543050989, rs147220426, rs1198149468, rs775571796, rs145137292, rs200739468, rs375459125, rs577473121, rs1460622785, rs1653840369, rs768206672, rs142123586, rs1653892014, rs752428680, rs756347879, rs146512242, rs143344734, rs181543393, rs531884184, rs1653939278, rs1653943896, rs565246095, rs900018260, rs1653955779, rs1040113254, rs148126079, rs1457146079, rs551091101, rs1378359750, rs140931431, rs544552151, rs555833838, rs146435279, rs757056873, rs1368816704, rs115376031, rs528983735, rs755509900, rs1028169993, rs961390698, rs777221691, rs138485279, rs148437823, rs1027382711, rs117347999, rs1432374941, rs968357183, rs1654092548, rs562835629, rs1056160668 View all (162 more) |
RCV001097605 RCV000278179 RCV001097606 RCV000386621 RCV000342581 RCV000307742 RCV000403404 RCV000380119 RCV000348267 RCV000356796 RCV000404102 RCV000381342 RCV000283743 RCV000335015 RCV000373261 RCV000402613 RCV000312552 RCV000363554 RCV000374888 RCV000295859 RCV000398999 RCV000281230 RCV000374939 RCV000350443 RCV000298935 RCV000394025 RCV000306190 RCV000270888 RCV000388583 RCV000385751 RCV000283941 RCV000395005 RCV000274308 RCV000377057 RCV000360154 RCV000296278 RCV000259371 RCV000290494 RCV000363286 RCV000375209 RCV000357960 RCV000265220 RCV000291788 RCV000406303 RCV000355194 RCV000286429 RCV000266612 RCV000295789 RCV000335557 RCV000308170 RCV000293286 RCV000405345 RCV000329829 RCV000352634 RCV000368423 RCV000287837 RCV000314170 RCV000365399 RCV000267424 RCV000373436 RCV000405192 RCV000308801 RCV000317436 RCV000385828 RCV000346391 RCV000396723 RCV000333333 RCV000275397 RCV000403807 RCV000298904 RCV000395751 RCV000378619 RCV000306806 RCV000387763 RCV000285764 RCV000407259 RCV000325393 RCV000324322 RCV000332831 RCV000280201 RCV000359740 RCV000366509 RCV000373965 RCV000339198 RCV000346310 RCV000297428 RCV000370782 RCV000327561 RCV000342535 RCV000352714 RCV000394157 RCV000406040 RCV000302855 RCV000290159 RCV000321744 RCV000341881 RCV000366889 RCV000323904 RCV000286771 RCV000303382 RCV000384262 RCV000326153 RCV000298786 RCV000369748 RCV000308850 RCV000359360 RCV000325592 RCV003991828 RCV001099256 RCV001101258 RCV001097699 RCV001101260 RCV001095813 RCV001099254 RCV001099257 RCV000986398 RCV000986399 RCV001097405 RCV001097497 RCV001097499 RCV001097500 RCV001101256 RCV001097603 RCV001099364 RCV001099367 RCV001099369 RCV001101358 RCV001101359 RCV001095915 RCV001095917 RCV001095918 RCV001097701 RCV001099475 RCV001099477 RCV001099479 RCV001099481 RCV001099482 RCV001096018 RCV001096019 RCV001096140 RCV001096141 RCV001097889 RCV001099685 RCV001099687 RCV001101669 RCV001101670 RCV001101672 RCV001097991 RCV001101759 RCV001096343 RCV001098081 RCV001098084 RCV001099871 RCV001099872 RCV001101866 RCV001101869 RCV001101870 RCV001096435 RCV001096438 RCV001098175 RCV001099955 RCV001099956 RCV001101962 RCV001101964 RCV001101965 RCV001096548 RCV001096551 RCV001096552 RCV001096554 RCV001098289 RCV001098291 RCV001098292 RCV001102050 RCV001102052 RCV001102054 RCV001096652 RCV001102237 RCV001102239 RCV001096827 RCV001096828 |
| Uterine corpus endometrial carcinoma |
Uncertain significance |
rs546932643 |
RCV005891472 |
| VANGL1-related disorder |
Likely benign; Conflicting classifications of pathogenicity |
rs772309606, rs143196463, rs61734296 |
RCV003912300 RCV003979914 RCV003906185 |
|