| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Benign |
rs16843826 |
RCV005937109 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs773871940 |
RCV004557781 |
| Gastric cancer |
Benign |
rs16843826 |
RCV005937110 |
| Hepatocellular carcinoma |
Benign |
rs16843826 |
RCV005937108 |
| High myopia |
Uncertain significance |
rs1558994892 |
RCV000785683 |
| LRP1B-associated developmental disorder |
Uncertain significance |
rs567834250 |
RCV001839293 |
| LRP1B-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign |
rs138996626, rs1263318938, rs556894524, rs1025450970, rs752524016, rs144617188, rs148610209, rs143745437, rs888305639, rs1480126356, rs149097380, rs370461554, rs17386226, rs150957163, rs200750929, rs16843864, rs117225004, rs6748626, rs12990449, rs13431727, rs12987572, rs147371945, rs762736870, rs148341635, rs139778530, rs35546150, rs74789055, rs144998818, rs1525579, rs16843826, rs35296183, rs3749010, rs1386356, rs141424207, rs145983879, rs76310658, rs115870540, rs35757222, rs375190223, rs752743011, rs755665413, rs996361, rs35164907, rs4954672, rs148724909, rs142353749, rs200509218, rs34488772, rs369842040, rs114310880, rs145931578, rs113154312, rs370586151, rs113936693, rs537703391, rs149107019, rs138919288, rs16844179, rs760815725, rs749227139, rs1349331434, rs149487197, rs113493406, rs142437710, rs34694228, rs72899872, rs72990625, rs144637939, rs34282756, rs775981750, rs148256177, rs372614781, rs201444730, rs34488899, rs762325796, rs138237325, rs117193300, rs79054985, rs1174870911, rs749286394, rs140358724, rs201590927, rs187196772, rs180963536, rs151169845, rs61732738, rs34006829, rs4444457, rs13013854, rs1429348, rs13007735, rs76554185, rs145911859, rs78797806, rs151247276, rs149686539, rs35821928, rs78806080, rs149644677, rs147162004, rs150879175, rs75124368, rs146867394, rs139951414, rs79533196, rs141827692, rs79742952, rs147402550, rs79798812, rs75995642, rs139084384, rs1385772, rs72973993, rs77234491, rs58748805, rs139908062, rs137873952, rs143446090, rs145744070, rs147017724, rs79879036, rs185628679, rs190269691, rs116331774, rs531937590, rs201943916, rs202023981 View all (112 more) |
RCV003954001 RCV003410701 RCV003408806 RCV003417014 RCV003393134 RCV003901059 RCV003946588 RCV003909236 RCV003921422 RCV003921764 RCV003907326 RCV003923973 RCV003929661 RCV003931852 RCV003981784 RCV003974325 RCV003974351 RCV003974358 RCV003974429 RCV003974553 RCV003974692 RCV003904224 RCV003906840 RCV003906936 RCV003904327 RCV003974076 RCV003974088 RCV003974226 RCV003967371 RCV003967377 RCV003967387 RCV003984675 RCV003984741 RCV003904093 RCV003912024 RCV003914271 RCV003916906 RCV003916977 RCV003977061 RCV003977084 RCV003977098 RCV003977301 RCV003984527 RCV003984564 RCV003909579 RCV003964183 RCV003971846 RCV003972058 RCV003981268 RCV003917105 RCV003917173 RCV003931608 RCV003931673 RCV003941381 RCV003939662 RCV003951597 RCV003934458 RCV003951728 RCV003944467 RCV003959306 RCV003914344 RCV003914369 RCV003914432 RCV003914627 RCV003932295 RCV003924384 RCV003924502 RCV003924725 RCV003958996 RCV003944743 RCV003956993 RCV003957075 RCV003969366 RCV003922081 RCV003922120 RCV003924246 RCV003932095 RCV003932261 RCV003932265 RCV003934193 RCV003934210 RCV003934238 RCV003942289 RCV003934325 RCV003954357 RCV003954358 RCV003954626 RCV003979059 RCV003974746 RCV003974751 RCV003981875 RCV003981879 RCV003982044 RCV003982162 RCV003954838 RCV003976691 RCV003964274 RCV003966909 RCV003976321 RCV003976387 RCV003935793 RCV003978201 RCV003935794 RCV003915836 RCV003915867 RCV003915845 RCV003978293 RCV003926048 RCV003915892 RCV003915954 RCV003903284 RCV003915824 RCV003943168 RCV003960793 RCV003936196 RCV003905885 RCV003936197 RCV003910646 RCV003910589 RCV003920761 RCV003930797 RCV003975571 RCV003968316 RCV003958188 RCV003958189 RCV003958230 RCV003975725 RCV003950606 RCV003958184 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs6748626 |
RCV005937137 |
| Malignant neoplastic disease |
Uncertain significance |
rs1688749606 |
RCV001254875 |
| Malignant tumor of urinary bladder |
Uncertain significance |
rs769915572 |
RCV005932343 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs16843826, rs75995642 |
RCV005937111 RCV005906819 |
| Prostate cancer |
Uncertain significance |
rs193920865, rs193921022 |
RCV000149255 RCV000149256 |
| Thymoma |
Benign; Likely benign |
rs75995642 |
RCV005906820 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs16843826, rs145744070 |
RCV005937112 RCV005906035 |
| Uterine carcinosarcoma |
Benign |
rs6748626 |
RCV005937138 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
30121391, 30720096, 33500480, 34152098 |
| Adenocarcinoma of Lung |
Associate |
18948947, 28522810, 35069585, 38166691 |
| Adrenocortical Carcinoma |
Associate |
25078331, 34410225 |
| Alzheimer Disease |
Associate |
26621834, 36951251 |
| Anodontia |
Associate |
31270961 |
| Biliary Tract Neoplasms |
Associate |
33754015 |
| Breast Neoplasms |
Associate |
33653800 |
| Carcinogenesis |
Associate |
16918994, 35069585 |
| Carcinoma |
Associate |
37115272 |
| Carcinoma Basal Cell |
Associate |
33928395 |
| Carcinoma Hepatocellular |
Associate |
34386813, 35150083, 35389768, 35651292, 35777027, 36153509 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
26718977 |
| Carcinoma Merkel Cell |
Associate |
36736454 |
| Carcinoma Non Small Cell Lung |
Inhibit |
11031110 |
| Carcinoma Non Small Cell Lung |
Associate |
33629637, 34603481, 36282125, 37525904 |
| Carcinoma Pancreatic Ductal |
Associate |
33255265, 34313325 |
| Carcinoma Renal Cell |
Inhibit |
23521319 |
| Carcinosarcoma |
Associate |
32209061 |
| Cardiovascular Diseases |
Associate |
23420841 |
| Colorectal Neoplasms |
Associate |
29575536, 33836681, 36520636, 37394872, 37992266 |
| Diabetes Mellitus Type 1 |
Associate |
22069270 |
| Endometrial Neoplasms |
Associate |
39686583 |
| Esophageal Neoplasms |
Associate |
28548104 |
| Esophageal Squamous Cell Carcinoma |
Inhibit |
16918994 |
| Glioblastoma |
Associate |
19435819, 34875133, 37511044 |
| Glioma |
Associate |
16247447, 37511044 |
| Hemihyperplasia Isolated |
Associate |
12004004 |
| Keratoconus |
Associate |
33729517 |
| Kidney Neoplasms |
Associate |
23521319 |
| Laryngeal Neoplasms |
Associate |
35911687 |
| Leukemia Lymphoma Adult T Cell |
Associate |
33562071 |
| Leukemia Myeloid Acute |
Associate |
32011516, 38019014 |
| Lung Diseases |
Associate |
33653800 |
| Lung Neoplasms |
Associate |
28522810, 33200540 |
| Lymphatic Metastasis |
Associate |
34152098, 39686583 |
| Lymphoma |
Associate |
37657032 |
| Lymphoma Follicular |
Associate |
30802265 |
| Lymphoma Mantle Cell |
Associate |
37605345 |
| Lymphoma Non Hodgkin |
Associate |
37742945 |
| Lymphoma Primary Cutaneous Anaplastic Large Cell |
Associate |
34382383 |
| Melanoma |
Associate |
33653800 |
| Microsatellite Instability |
Associate |
31270961, 33653800 |
| Multiple Myeloma |
Associate |
29895955 |
| Neoplasm Metastasis |
Associate |
33255265, 37394872, 39673828 |
| Neoplasms |
Inhibit |
11031110, 12004004, 17227771, 18948947, 20073072, 34689147, 36823311, 37742945 |
| Neoplasms |
Associate |
23521319, 28548104, 29575536, 30703342, 30720096, 31312661, 32209061, 33432021, 33629637, 33653800, 33754015, 33810183, 33933102, 33994859, 34382383, 34410225, 34545149, 34603481, 34720757, 34875133, 34980012, 35389768, 35777027, 35860812, 35911687, 35918329, 36163440, 36282125, 36520636, 36606427, 36634615, 37511044, 37974218, 38381429, 39238637 View all (20 more) |
| Neoplastic Cells Circulating |
Associate |
29565466 |
| Obesity |
Associate |
30755693 |
| Ovarian Neoplasms |
Associate |
33432021, 34689147, 36721777, 37525498, 37742945 |
| Pancreatic Neoplasms |
Associate |
25945796 |
| Pdgfrb Associated Chronic Eosinophilic Leukemia |
Associate |
32011516 |
| Pre Eclampsia |
Associate |
23420841 |
| Prostatic Neoplasms |
Associate |
30877185, 31270961, 33115829, 33214693 |
| Prostatitis |
Associate |
33653800 |
| Pulmonary Disease Chronic Obstructive |
Stimulate |
28522810 |
| Pulmonary Disease Chronic Obstructive |
Associate |
35860812 |
| Red Cell Aplasia Pure |
Associate |
29767669 |
| Rhabdomyosarcoma Embryonal |
Associate |
39379998 |
| Sarcoma |
Associate |
33653800 |
| Sarcopenia |
Associate |
36573383 |
| Small Cell Lung Carcinoma |
Associate |
31199602, 35596192 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
16918994, 33994859, 37340028, 37373553 |
| Stomach Neoplasms |
Associate |
31312661, 32034058, 33511732, 33827485, 33900127, 33933102, 34551773, 34603481, 36823311 |
| Stomach Neoplasms |
Inhibit |
36606427 |
| Thyroid Neoplasms |
Associate |
36916542, 40184130 |
| Urethral Neoplasms |
Associate |
12004004 |
| Urinary Bladder Neoplasms |
Associate |
35841413 |
| Uterine Cervical Neoplasms |
Associate |
17504382, 33994859, 36333792 |
|