| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs1383675914, rs755030491 |
RCV004560268 RCV004560269 |
| Familial meningioma |
Uncertain significance; Likely benign |
rs369465727, rs200404766 |
RCV005645460 RCV005645780 |
| FAT3-related disorder |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs995605552, rs2136350883, rs76685441, rs139595720, rs139642369, rs371269485, rs118056487, rs75651194, rs10765565, rs138237129, rs76965380, rs150673105, rs117219140, rs192587610, rs117883911, rs138287952, rs2136415000, rs144711293, rs373882316, rs114152693, rs75649640, rs76958954, rs925897616, rs149957554, rs147702453, rs142896945, rs1448341536, rs62622785, rs188175143, rs72962460, rs372222951, rs369683528, rs117144267, rs114589936, rs139337740, rs183973334, rs372403199, rs189080743, rs373479227, rs768567613, rs201768802, rs10830902, rs200032318, rs757998407, rs536537428, rs201507634, rs369269637, rs192482905, rs187737590, rs751403167, rs142950989, rs114771256, rs187159256, rs200404766, rs148509249, rs201479806, rs144368265, rs115969381, rs149118545, rs187454400, rs115948782, rs184000863, rs201449521, rs375539433, rs139731877, rs75527815, rs10830903, rs78791720, rs115557339, rs143705185, rs527501342, rs7108160, rs80046666, rs114735511, rs116657035, rs139617275, rs56843577, rs59542280, rs191309466, rs58474174, rs114541747, rs72970548, rs202189411, rs75081660, rs116513992, rs80074298, rs17615477, rs369657805, rs149381905 View all (74 more) |
RCV003402507 RCV003404622 RCV003984364 RCV003919103 RCV003929031 RCV003954128 RCV003919104 RCV003980874 RCV003929032 RCV003929033 RCV003919105 RCV003909429 RCV003919799 RCV003923926 RCV003923972 RCV003924130 RCV003983455 RCV003904136 RCV003904173 RCV003904273 RCV003982499 RCV003903876 RCV003903988 RCV003911923 RCV003912083 RCV003916938 RCV003964402 RCV003973888 RCV003973954 RCV003974064 RCV003967267 RCV003909615 RCV003909755 RCV003909814 RCV003933894 RCV003934050 RCV003927343 RCV003944122 RCV003952022 RCV003944574 RCV003964103 RCV003981203 RCV003919464 RCV003931440 RCV003931681 RCV003941440 RCV003924565 RCV003941653 RCV003941663 RCV003927253 RCV003939727 RCV003951590 RCV003917407 RCV003924739 RCV003934362 RCV003956885 RCV003958966 RCV003958991 RCV003926970 RCV003931991 RCV003932103 RCV003932193 RCV003932223 RCV003957207 RCV003961979 RCV003962317 RCV003972279 RCV003976715 RCV003962227 RCV003915672 RCV003933273 RCV003915872 RCV003935870 RCV003903299 RCV003935871 RCV003916130 RCV003916175 RCV003916176 RCV003916230 RCV003972844 RCV003916231 RCV003968171 RCV003948357 RCV003983241 RCV003920658 RCV003920659 RCV003975671 RCV003915816 RCV003972869 |
| Gastric cancer |
Likely benign |
rs200404766 |
RCV005933186 |
| Global developmental delay |
Uncertain significance |
rs761824915 |
RCV002074451 |
| Hirschsprung disease, susceptibility to, 1 |
Uncertain significance |
rs863223333 |
RCV000201304 |
| Sarcoma |
Likely benign |
rs200404766 |
RCV005933185 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
30075702, 35069585, 35212236 |
| Ataxia Telangiectasia |
Associate |
26439923 |
| Autism Spectrum Disorder |
Associate |
33562221 |
| Carcinoma Acinar Cell |
Associate |
25743105 |
| Carcinoma Non Small Cell Lung |
Associate |
35212236, 37525904 |
| Carcinoma Squamous Cell |
Associate |
32500594, 35212236 |
| Carcinosarcoma |
Associate |
32209061 |
| Colorectal Neoplasms |
Associate |
33714943, 36171645 |
| Epilepsy |
Associate |
31957018 |
| Glaucoma |
Associate |
31816047 |
| Hirschsprung Disease |
Associate |
26559152 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
27060156 |
| Lymphoma Non Hodgkin |
Associate |
32533757 |
| Neoplasm Metastasis |
Associate |
32533757 |
| Neoplasms |
Associate |
25743105, 30475948, 33537171, 35212236 |
| Peritonitis |
Associate |
32533757 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
23603912, 33436855 |
| Rectal Diseases |
Associate |
37387515 |
| Retinal Detachment |
Associate |
31816047, 32352494 |
| Scoliosis |
Associate |
35853984 |
| Strabismus |
Associate |
33435129 |
| Triple Negative Breast Neoplasms |
Associate |
33968045 |
|