| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign; Benign |
rs12420593, rs111473261 |
RCV005917696 RCV005923616 |
| CD151-related disorder |
Conflicting classifications of pathogenicity; Likely benign; Benign |
rs559057238, rs144204595, rs572689402, rs781747523, rs138746134, rs34726520, rs117252522, rs199816860, rs374490956 |
RCV003953685 RCV003946271 RCV003906336 RCV003909130 RCV003981747 RCV004758067 RCV004758071 RCV003933153 RCV004758090 |
| Gastric cancer |
Likely benign; Uncertain significance |
rs34037130, rs750823987, rs374490956 |
RCV005914525 RCV005920786 RCV005903025 |
| Lung cancer |
Likely benign |
rs12420593 |
RCV005917698 |
| Malignant tumor of esophagus |
Likely benign |
rs12420593 |
RCV005917697 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs34037130 |
RCV005914526 |
| RAPH BLOOD GROUP SYSTEM |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs192915611, rs35465458, rs141569440, rs777391775, rs371206840, rs146079952, rs370838704, rs200783645, rs770882120, rs375059668, rs143948122, rs199919101, rs560834839, rs753806157, rs887154171, rs1846822053, rs769690275, rs1162525540, rs374162358, rs766643476, rs2495978398, rs372034658, rs145755423, rs146967048, rs150909098, rs147298858, rs949958895 View all (12 more) |
RCV002501964 RCV002495977 RCV002484608 RCV002491982 RCV002507024 RCV002506889 RCV005008472 RCV002500047 RCV002505797 RCV002498153 RCV002500398 RCV002500270 RCV005010952 RCV005011024 RCV005008621 RCV005002863 RCV005008684 RCV005008722 RCV005010787 RCV005002913 RCV005010876 RCV005002987 RCV005013007 RCV005003697 RCV005013229 RCV005003737 RCV005013255 |
| Sarcoma |
Likely benign; Uncertain significance |
rs34037130, rs150909098 |
RCV005914524 RCV005935022 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
20543560 |
| Adenocarcinoma of Lung |
Associate |
18492066 |
| Ascites |
Associate |
36613908 |
| Barrett Esophagus |
Associate |
20543560 |
| beta Thalassemia |
Associate |
15265795 |
| Breast Neoplasms |
Associate |
21505452, 22294188, 22791584, 23717581, 23816858, 26418423, 30468476 |
| Carcinogenesis |
Associate |
36613908 |
| Carcinoma Hepatocellular |
Associate |
21961047, 30794666, 37960718 |
| Carcinoma Hepatocellular |
Stimulate |
28473332 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
26464707 |
| Carcinoma Lobular |
Associate |
26418423 |
| Carcinoma Merkel Cell |
Associate |
20118909 |
| Carcinoma Pancreatic Ductal |
Associate |
29045505 |
| Carcinoma Renal Cell |
Stimulate |
21505452 |
| Carcinoma Renal Cell |
Associate |
35955933 |
| Carcinoma Squamous Cell |
Associate |
21193415, 27107458 |
| Carcinosarcoma |
Associate |
21505452 |
| Cell Transformation Neoplastic |
Associate |
25033048 |
| Chlamydial Pneumonia |
Associate |
36248887 |
| Cholangiocarcinoma |
Associate |
20715158 |
| Colorectal Neoplasms |
Associate |
12838318 |
| Colorectal Neoplasms |
Stimulate |
34638669 |
| COVID 19 |
Associate |
39374860 |
| Death |
Associate |
26418423 |
| Diarrhea 5 With Tufting Enteropathy Congenital |
Associate |
24201754 |
| Endometrial Neoplasms |
Associate |
21505452 |
| Epidermal Cyst |
Associate |
16571677, 17632541 |
| Epidermolysis bullosa pretibial |
Associate |
15265795 |
| Glioblastoma |
Stimulate |
26992919 |
| Glioma |
Associate |
26992919 |
| Glomerulonephritis Membranous |
Associate |
37974210 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate |
11739177 |
| Hearing Loss Sensorineural |
Associate |
15265795 |
| Inflammation |
Associate |
28473332, 32978478 |
| Kidney Failure Chronic |
Associate |
15265795 |
| Leukemia Megakaryoblastic Acute |
Associate |
7632941 |
| Leukemia Myeloid |
Associate |
7632941 |
| Liver Diseases |
Stimulate |
28473332 |
| Liver Failure |
Associate |
25033048 |
| Lupus Erythematosus Systemic |
Associate |
17083624 |
| Lymphatic Metastasis |
Associate |
20715158 |
| Lymphatic Metastasis |
Stimulate |
30468476 |
| Lymphoma B Cell |
Associate |
40464949 |
| Melanoma |
Associate |
16798740, 22843693 |
| Neoplasm Metastasis |
Associate |
16798740, 17632541, 20715158, 21961047, 22294188, 24324730, 25119599, 26418423, 28291843 |
| Neoplasm Metastasis |
Stimulate |
23533596, 30468476 |
| Neoplasms |
Associate |
16571677, 16798740, 17632541, 20118909, 20715158, 21193415, 21505452, 22294188, 26464707, 26992919, 28276309, 28291843, 28473332, 28954890, 30468476, 35955933, 39294214, 40464949 View all (3 more) |
| Nephritis Hereditary |
Associate |
15265795 |
| Osteosarcoma |
Associate |
20470422 |
| Ovarian Neoplasms |
Associate |
28273451, 36613908 |
| Prostatic Neoplasms |
Associate |
22457534, 28291843 |
| Prostatitis |
Associate |
11988844 |
| Pyloric Atresia |
Associate |
10811835 |
| Rectal Neoplasms |
Associate |
16200075 |
| Small Cell Lung Carcinoma |
Associate |
32586373 |
| Stomach Neoplasms |
Associate |
23533596, 25119599 |
| Tertiary Lymphoid Structures |
Associate |
23533596 |
| Triple Negative Breast Neoplasms |
Associate |
22294188, 34265469, 39294214 |
| Uterine Diseases |
Associate |
36248887 |
|