| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs1800141 |
RCV005916459 |
| Adrenocortical carcinoma, hereditary |
Benign |
rs1800141 |
RCV005916461 |
| Cervical cancer |
Benign; Likely benign |
rs2229281, rs138980324 |
RCV005903665 RCV005913339 |
| Colon adenocarcinoma |
Benign |
rs1800141 |
RCV005916458 |
| Colorectal cancer |
Benign |
rs1800141 |
RCV005916463 |
| Developmental disorder |
Uncertain significance |
rs1565750061 |
RCV001843464 |
| Familial cancer of breast |
Likely benign |
rs36011472 |
RCV005933501 |
| Gastric cancer |
Uncertain significance |
rs543562619 |
RCV005930683 |
| Hepatocellular carcinoma |
Benign; Likely benign |
rs1800180, rs2229281, rs138966453, rs771447920 |
RCV005920506 RCV005903664 RCV005907582 RCV005906302 |
| Keratosis pilaris atrophicans |
Uncertain significance; Conflicting classifications of pathogenicity |
rs368737311, rs149099223, rs1799986 |
RCV003492830 RCV003492831 RCV005647377 |
| LRP1-related disorder |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs12814239, rs2548066269, rs138150221, rs754352470, rs147797119, rs757521900, rs769789309, rs148345722, rs749898308, rs2548075480, rs1423891630, rs145068367, rs146906834, rs200442207, rs766779347, rs148215878, rs202166796, rs201022963, rs763054060, rs564537115, rs201012424, rs375934857, rs149291689, rs754459908, rs201671276, rs144836356, rs371999072, rs143564505, rs199769118, rs36011472, rs142648527, rs201273876, rs770118882, rs151021372, rs1800127, rs202223953, rs764419797, rs759621055, rs368393904, rs547948235, rs749620364, rs2548086043, rs148649571, rs150228051, rs138786816, rs140549523, rs201119903, rs79365493, rs2228187, rs113379328, rs1800142, rs143327344, rs148875245, rs200440566, rs371135526, rs35605204, rs139606559, rs754786842, rs139469031, rs190093413, rs1799986 View all (46 more) |
RCV003921304 RCV003414099 RCV003980877 RCV003906736 RCV003946632 RCV003907216 RCV003981724 RCV003906870 RCV003904403 RCV003904494 RCV003964502 RCV003981420 RCV003979689 RCV003911788 RCV003903939 RCV003903981 RCV003916822 RCV003979465 RCV003909367 RCV003913879 RCV003933829 RCV003939859 RCV003942040 RCV003934547 RCV003944231 RCV003947386 RCV003959764 RCV003963881 RCV003964178 RCV003971877 RCV003917227 RCV003931817 RCV003939648 RCV003917385 RCV003924523 RCV003949263 RCV003944749 RCV003969349 RCV003934311 RCV003946831 RCV003947014 RCV003956863 RCV003944626 RCV003954479 RCV003979145 RCV003978920 RCV003964235 RCV003970754 RCV003913319 RCV003953322 RCV003916018 RCV003936072 RCV003940403 RCV003968232 RCV003968364 RCV003902929 RCV004751807 RCV003977995 RCV003933177 RCV003978255 RCV003983847 |
| Lung cancer |
Likely benign |
rs138980324 |
RCV005913340 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs1800141 |
RCV005916462 |
| Malignant tumor of esophagus |
Likely benign |
rs771447920 |
RCV005906303 |
| Melanoma |
Benign; Likely benign |
rs1800141, rs36011472 |
RCV005916467 RCV005933502 |
| Nonpapillary renal cell carcinoma |
Benign |
rs1800141 |
RCV005916460 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs2229281 |
RCV005903666 |
| Prostate cancer |
Uncertain significance |
rs769851229 |
RCV000206857 |
| Sarcoma |
Benign |
rs1800141 |
RCV005916464 |
| Thymoma |
Benign |
rs1800141 |
RCV005916466 |
| Tricuspid atresia |
Uncertain significance |
rs770169648, rs1396150729 |
RCV001007928 RCV001007929 |
| Uterine carcinosarcoma |
Benign |
rs1800141 |
RCV005916465 |
| Uterine corpus endometrial carcinoma |
Benign |
rs1800141 |
RCV005916468 |
| Variant of unknown significance |
Uncertain significance |
rs1565750061 |
RCV000033099 |
| Ventricular septal defect |
Uncertain significance |
rs770169648, rs1396150729 |
RCV001007928 RCV001007929 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
24596678, 38067191, 39394110 |
| Adenocarcinoma of Lung |
Associate |
21325077 |
| Alzheimer Disease |
Associate |
10899157, 11461976, 12888553, 12951770, 19664312, 19665999, 21593627, 21676498, 23167255, 24596678, 26856603, 28578378, 34387022, 38067191, 38417436, 9350853, 9837937 View all (2 more) |
| Alzheimer Disease |
Inhibit |
25757756, 33246059 |
| Aneurysm |
Inhibit |
24054777 |
| Aortic Aneurysm Abdominal |
Associate |
22055160, 24423473, 25198969, 37893562 |
| Aortic Aneurysm Abdominal |
Inhibit |
24054777, 26781079 |
| Aortic Dissection |
Associate |
27569546 |
| Arthritis Rheumatoid |
Associate |
26814849 |
| Atherosclerosis |
Associate |
24423473, 24639232, 8182133 |
| Autism Spectrum Disorder |
Associate |
31094488 |
| Autistic Disorder |
Associate |
31094488 |
| Autoimmune Diseases |
Associate |
26031516 |
| Bicuspid Aortic Valve Disease |
Associate |
36071494 |
| Brain Injuries |
Associate |
8307199 |
| Brain Ischemia |
Stimulate |
38067191 |
| Breast Neoplasms |
Associate |
12793904, 21299862, 22570085, 37684436 |
| Bronchopulmonary Dysplasia |
Stimulate |
34104089 |
| Carcinoma Hepatocellular |
Associate |
22427881 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
38615592 |
| Carcinoma Non Small Cell Lung |
Associate |
12684672, 39752787, 8879378 |
| Carcinoma Ovarian Epithelial |
Associate |
36842607 |
| Carcinoma Renal Cell |
Associate |
19393132, 33828127 |
| Carcinoma Small Cell |
Associate |
8879378 |
| Carcinoma Squamous Cell |
Stimulate |
8879378 |
| Cardiomyopathy Dilated |
Associate |
24423473, 28557183 |
| Cardiotoxicity |
Stimulate |
37684436 |
| Cardiovascular Diseases |
Associate |
22819221, 24639232, 32455133 |
| Carotid Artery Injuries |
Associate |
32374345 |
| Central Nervous System Diseases |
Associate |
27986809 |
| Cerebral Amyloid Angiopathy |
Stimulate |
18055545 |
| Cerebral Infarction |
Associate |
26031789, 35241660 |
| Cerebrovascular Disorders |
Associate |
32374345 |
| Choroidal Neovascularization |
Inhibit |
20561980 |
| Cognition Disorders |
Associate |
21676498 |
| Cognitive Dysfunction |
Associate |
19664312 |
| Colorectal Neoplasms |
Associate |
20558745, 25550888, 33172883, 37310025 |
| Communicable Diseases |
Associate |
15498042 |
| Coronary Artery Disease |
Associate |
12732394, 28209224, 31247347, 32374345 |
| Coronary Artery Dissection Spontaneous |
Associate |
32374345 |
| Coronary Disease |
Associate |
15121769, 37147786 |
| COVID 19 |
Associate |
37924708 |
| Cystic Fibrosis |
Inhibit |
30177416 |
| Death |
Associate |
33172883 |
| Dementia |
Associate |
21676498, 38067191 |
| Demyelinating Diseases |
Associate |
35241660 |
| Diabetes Gestational |
Inhibit |
23898049 |
| Diabetes Mellitus |
Associate |
20561980, 32455133 |
| Diabetes Mellitus Type 2 |
Inhibit |
12393177 |
| Disease |
Associate |
21907175 |
| Disease Resistance |
Associate |
12684672 |
| Dissection Thoracic Aorta |
Associate |
27569546 |
| Down Syndrome |
Associate |
10207158 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
36356021 |
| Dyslipidemias |
Associate |
37147786 |
| Endometriosis |
Associate |
35421980 |
| Episodic Ataxia |
Associate |
38067191 |
| Esophageal Squamous Cell Carcinoma |
Associate |
32217514, 33311557 |
| Glioblastoma |
Associate |
19176371, 21408136, 7961982 |
| Glioma |
Associate |
26164207, 34831480, 35862252, 8307199 |
| Glomerulonephritis Membranous |
Associate |
30067725 |
| Gout |
Associate |
32569156 |
| Headache |
Associate |
29397368 |
| Helicobacter Infections |
Associate |
30176157 |
| Hemophilia A |
Associate |
28393618 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit |
38615592 |
| HTLV I Infections |
Inhibit |
15800028 |
| Hypercholesterolemia |
Associate |
12837856 |
| Hyperlipoproteinemia Type II |
Associate |
22819221, 33028190 |
| Hypertension |
Associate |
29989339, 33566965 |
| Hypertriglyceridemia |
Associate |
32115487 |
| Hypoxia |
Associate |
19383717 |
| Hypoxia |
Stimulate |
21408136 |
| Idiopathic Pulmonary Fibrosis |
Associate |
38225283 |
| Infections |
Associate |
22817990 |
| Inflammation |
Associate |
24639232, 26031516, 35421980 |
| Inflammation |
Inhibit |
33246059 |
| Ischemia |
Stimulate |
38067191 |
| Ischemic Stroke |
Associate |
28431990 |
| Kidney Neoplasms |
Stimulate |
33828127 |
| Leukemia |
Associate |
18200595 |
| Leukemia Myeloid Acute |
Associate |
18200595, 36781600, 9886324 |
| Leukemia Promyelocytic Acute |
Associate |
15108169 |
| Lung Neoplasms |
Associate |
21325077, 8879378 |
| Lupus Erythematosus Systemic |
Associate |
16645988 |
| Lymphatic Metastasis |
Associate |
37310025 |
| Lymphoma Large B Cell Diffuse |
Associate |
23531283 |
| Lymphoma Primary Effusion |
Associate |
22412839 |
| Malnutrition |
Associate |
34433325 |
| Marfan Syndrome |
Associate |
24484584 |
| Melanoma |
Associate |
15498042, 7495278 |
| Mental Disorders |
Associate |
31094488 |
| Migraine Disorders |
Associate |
21666692, 22683712, 24674449, 24852292, 26660531, 29397368, 39333847 |
| Migraine with Aura |
Associate |
26660531 |
| Mohr Tranebjaerg syndrome |
Stimulate |
32400857 |
| Multiple Myeloma |
Associate |
26762414 |
| Myocardial Ischemia |
Associate |
29396305 |
| Nasal Polyps |
Associate |
32047813 |
| Nasopharyngeal Carcinoma |
Associate |
32400857 |
| Neoplasm Metastasis |
Associate |
19665999, 35628341, 37310025, 7495278 |
| Neoplasms |
Associate |
12122280, 12793904, 15498042, 18316405, 19176371, 19383717, 19665999, 21325077, 21542898, 22427881, 22711991, 25300797, 26185130, 26202601, 28662213, 29088295, 29387293, 36781600, 37153545, 37733241, 37768946, 37955612, 39752787 View all (8 more) |
| Neuroblastoma |
Associate |
11461976 |
| Neurodegenerative Diseases |
Associate |
34696705 |
| Neuroinflammatory Diseases |
Associate |
37305557 |
| Nevus |
Associate |
7495278 |
| Noonan Syndrome |
Associate |
32514133 |
| Obesity |
Associate |
22347399 |
| Obesity Metabolically Benign |
Associate |
32957486 |
| Olfaction Disorders |
Associate |
37924708 |
| Optic Nerve Diseases |
Associate |
21593627 |
| Osteoarthritis |
Associate |
28235248, 31560818 |
| Osteoarthritis |
Inhibit |
31560818 |
| Osteoarthritis Knee |
Associate |
31560818 |
| Osteoporosis |
Associate |
22957024 |
| Osteosarcoma |
Associate |
25300797, 25418192 |
| Ototoxicity |
Associate |
30505321, 37768946 |
| Pancreatic Neoplasms |
Associate |
35628341 |
| Parkinson Disease |
Associate |
21907175, 25556233 |
| Personality Disorders |
Associate |
22427881 |
| Plaque Amyloid |
Associate |
24596678 |
| Plaque Atherosclerotic |
Associate |
22819221 |
| Post Acute COVID 19 Syndrome |
Associate |
37924708 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
35488386 |
| Preeclamptic toxemia |
Associate |
23898049 |
| Prostatitis |
Associate |
28662213 |
| Retinal Drusen |
Associate |
33776059 |
| Schizophrenia |
Associate |
31094488 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit |
28662213 |
| Stomach Neoplasms |
Associate |
36430456 |
| Stroke |
Associate |
26031789 |
| Systemic Inflammatory Response Syndrome |
Associate |
17458880 |
| Thyroid Cancer Papillary |
Associate |
30904818, 37733241 |
| Tuberculosis Multidrug Resistant |
Associate |
10817511, 11862483, 12122280, 18200595, 22664042, 28668966, 29387293, 30505321, 32400857 |
| Urinary Bladder Neoplasms |
Associate |
34819038, 36030212, 37153545 |
| Venous Thromboembolism |
Associate |
17155964 |
| Weight Gain |
Associate |
23404896 |
|