| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs2304393 |
RCV005900487 |
| Adrenocortical carcinoma, hereditary |
Benign |
rs2304393 |
RCV005900488 |
| Amyloidosis |
Uncertain significance; Benign |
rs745588757, rs147410423, rs71680051, rs751044080, rs886063408, rs886063409, rs886063410 |
RCV000283584 RCV000402364 RCV000305154 RCV000359616 RCV000395703 RCV000335203 RCV000298820 RCV000300139 RCV000264032 RCV000359858 |
| Cervical cancer |
Benign; Likely benign |
rs149375418, rs143590302 |
RCV005900484 RCV005906000 |
| Cholangiocarcinoma |
Benign |
rs2304393 |
RCV005900493 |
| Colorectal cancer |
Uncertain significance; Benign |
rs138677601, rs2304393 |
RCV005923909 RCV005900490 |
| GSN-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign |
rs199681748, rs752572521, rs200319453, rs758909359, rs375172023, rs374982895, rs754716980, rs139028645, rs143285592, rs147583697, rs151208452, rs115224458, rs2304393, rs774617795, rs116185403, rs145775883, rs1564478729, rs114410565, rs146329975, rs9696578, rs143590302, rs186654124, rs200027070, rs567372749 View all (9 more) |
RCV003911048 RCV004756342 RCV004756321 RCV003933387 RCV004756349 RCV003958699 RCV003958794 RCV004756359 RCV003418558 RCV004755904 RCV003932513 RCV003912565 RCV003957863 RCV003972537 RCV003932512 RCV003979429 RCV003964005 RCV003924252 RCV003905921 RCV003930787 RCV003968122 RCV003975668 RCV003928765 RCV003963108 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2304393 |
RCV005900489 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs149375418 |
RCV005900483 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs149375418 |
RCV005900485 |
| Pancreatic adenocarcinoma |
Benign; Likely benign |
rs143590302 |
RCV005906001 |
| Sarcoma |
Benign; Likely benign |
rs143590302 |
RCV005906002 |
| Thymoma |
Benign |
rs2304393 |
RCV005900492 |
| Uterine carcinosarcoma |
Benign |
rs2304393 |
RCV005900491 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs2304393, rs149375418, rs774617795, rs143590302 |
RCV005900494 RCV005900486 RCV005900482 RCV005906003 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
10767822, 16475811, 1652889, 1849145, 19904968, 24747948, 32861330 |
| Acute Coronary Syndrome |
Associate |
34002800 |
| Adenocarcinoma |
Associate |
30097534 |
| Adenocarcinoma of Lung |
Associate |
28404947 |
| Adenoma |
Associate |
37365287 |
| Alzheimer Disease |
Associate |
24756957, 36650038 |
| Amyloidosis |
Associate |
10729296, 10970804, 1652889, 20740538, 24601799, 29069428, 29167514, 29455155, 31243148, 33499149, 33908214, 9109384 |
| Amyloidosis Familial |
Associate |
10729296, 10767822, 11849445, 1319113, 1652889, 1849145, 2175344, 2176164, 2176481, 22068858, 26915616, 28039894, 29455155, 31243148, 32368002, 36379630, 36650038, 8243656 View all (3 more) |
| Amyloidosis familial visceral |
Associate |
20951486, 24601799, 27633054 |
| Amyloidosis Hereditary Transthyretin Related |
Associate |
20937937 |
| Amyotrophic Lateral Sclerosis |
Associate |
32792518 |
| Aneurysm |
Stimulate |
29929532 |
| Arrhythmias Cardiac |
Associate |
33499149 |
| Arthritis Rheumatoid |
Associate |
23418544, 27997897, 30662913, 33660820 |
| Blood Platelet Disorders |
Associate |
28343311 |
| Bone Diseases |
Associate |
17900349 |
| Bone Diseases Metabolic |
Associate |
24607942 |
| Brain Concussion |
Associate |
36834989 |
| Breast Neoplasms |
Associate |
23324580, 26061043, 26482896 |
| Bulbar Palsy Progressive |
Associate |
28039894 |
| Carcinoma Hepatocellular |
Associate |
24614035, 28440466, 36192574 |
| Carcinoma Non Small Cell Lung |
Associate |
16882345, 22190510, 27121073 |
| Carcinoma Pancreatic Ductal |
Inhibit |
18584046 |
| Carcinoma Renal Cell |
Associate |
19752005 |
| Chemical and Drug Induced Liver Injury |
Associate |
22952982 |
| Cognition Disorders |
Associate |
36650038 |
| Colonic Neoplasms |
Associate |
22288069, 35444189 |
| Colonic Neoplasms |
Inhibit |
27573444 |
| Colonic Polyps |
Associate |
37365287 |
| Colorectal Neoplasms |
Associate |
15213223, 22927998, 29476593, 30148861 |
| Colorectal Neoplasms |
Stimulate |
27391159 |
| Conotruncal cardiac defects |
Associate |
25393621 |
| Corneal Dystrophies Hereditary |
Associate |
33499149 |
| Corneal dystrophy epithelial basement membrane |
Associate |
19710953 |
| COVID 19 |
Associate |
36148234 |
| Cranial Nerve Diseases |
Associate |
10767822 |
| Cutis Laxa |
Associate |
24601799 |
| Death |
Stimulate |
16882345 |
| Death |
Associate |
22190510 |
| Diabetes Mellitus |
Associate |
36899335 |
| Down Syndrome |
Stimulate |
19561443 |
| Drug Hypersensitivity |
Inhibit |
15300799 |
| Drug Related Side Effects and Adverse Reactions |
Inhibit |
36650038 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
36650038 |
| Dystonia |
Associate |
1985454 |
| Encephalitis Tick Borne |
Inhibit |
21389683 |
| Esophageal Neoplasms |
Associate |
25600697 |
| Fatigue Syndrome Chronic |
Associate |
16049284 |
| Fetal Growth Retardation |
Associate |
38069155 |
| Fibrosis |
Associate |
28208683 |
| Frontotemporal Dementia |
Associate |
32792518 |
| Gamma A Globulin Defect in Assembly of |
Associate |
28431142 |
| Glioblastoma |
Associate |
29513714 |
| Glioma |
Associate |
11916500 |
| Glomerulonephritis IGA |
Associate |
27997897 |
| Glomerulonephritis IGA |
Inhibit |
28208683 |
| Heart Diseases |
Associate |
21389683 |
| Hepatitis B |
Associate |
20606740 |
| Hepatitis C |
Associate |
22952982 |
| Hypertension |
Associate |
40133696 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate |
20606740 |
| Infarction |
Stimulate |
29545349 |
| Infections |
Associate |
33660820 |
| Inflammation |
Associate |
21389683, 33660820, 36899335, 37958747 |
| Kidney Diseases |
Associate |
27633054 |
| Lattice corneal dystrophy type 1 |
Associate |
10767822, 1319113 |
| Lattice Corneal Dystrophy Type II |
Associate |
10767822, 10995458, 11226240, 19904968, 20937937, 2176481, 24601799, 29599423, 30417985, 32368002, 33499149 |
| Lattice Corneal Dystrophy Type II |
Stimulate |
9109384 |
| Leukemia |
Inhibit |
23167427 |
| Leukemia Biphenotypic Acute |
Inhibit |
32992584 |
| Lipoma |
Associate |
36881074 |
| Liver Cirrhosis |
Associate |
20606740 |
| Liver Diseases |
Associate |
22952982 |
| Liver Failure |
Associate |
20606740, 28025641 |
| Lupus Erythematosus Systemic |
Associate |
33660820 |
| Lyme Neuroborreliosis |
Inhibit |
21389683 |
| Lymphatic Metastasis |
Associate |
18584046 |
| Mammary Neoplasms Animal |
Associate |
16217750 |
| Melanoma |
Associate |
35444189 |
| Meretoja syndrome |
Associate |
10729296, 32368002 |
| Mesothelioma Malignant |
Associate |
15920167 |
| Mitochondrial Diseases |
Associate |
28431142, 34203775 |
| Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport |
Associate |
34203775 |
| Multiple Myeloma |
Associate |
27633054 |
| Multiple Sclerosis |
Associate |
33660820, 37406976 |
| Myasthenia Gravis |
Associate |
35802752 |
| Myelodysplastic Syndromes |
Inhibit |
32992584 |
| Nail Patella Syndrome |
Associate |
7825584 |
| Nasopharyngeal Carcinoma |
Associate |
28107202 |
| Neonatal Sepsis |
Associate |
37471663 |
| Neoplasm Invasiveness |
Stimulate |
16417404 |
| Neoplasm Invasiveness |
Associate |
30148861 |
| Neoplasm Metastasis |
Associate |
22190510, 23324580 |
| Neoplasm Metastasis |
Inhibit |
27573444 |
| Neoplasm Metastasis |
Stimulate |
36192574 |
| Neoplasms |
Associate |
11196307, 12216092, 16882345, 17982131, 22190510, 23324580, 25246592, 26823700, 27072581, 27157519, 27391159, 30118659, 31700155, 32992584, 34144901, 34440306, 35444189, 36881074 View all (3 more) |
| Neoplasms |
Inhibit |
15300799, 22927998, 23167427, 27573444, 30185973, 37365287 |
| Neoplasms |
Stimulate |
16417404 |
| Nephrotic Syndrome |
Associate |
24601799 |
| Nervous System Diseases |
Associate |
28039894 |
| Neurodegenerative Diseases |
Associate |
20740538 |
| Oncogene Addiction |
Inhibit |
15213223 |
| Optic Nerve Diseases |
Associate |
33499149 |
| Optic Nerve Hypoplasia Bilateral |
Associate |
33499149 |
| Osteoporosis |
Associate |
27153759, 37874452 |
| Osteosarcoma |
Associate |
34440306 |
| Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis |
Associate |
32992584 |
| Ovarian Neoplasms |
Associate |
25246592, 31700155, 38216951 |
| Pain |
Stimulate |
22998556 |
| Pancreatic Neoplasms |
Associate |
16847067, 22316387, 27461278 |
| Pancreatic Neoplasms |
Inhibit |
18584046 |
| Pathological Conditions Anatomical |
Associate |
22952982 |
| Peritoneal Fibrosis |
Stimulate |
28673451 |
| Philadelphia Chromosome |
Associate |
2831714 |
| Plaque Amyloid |
Associate |
1849145 |
| Pleural Effusion |
Associate |
29047238 |
| Pre Eclampsia |
Stimulate |
24296084 |
| Premature Birth |
Inhibit |
37356366 |
| Proteinuria |
Associate |
24601799 |
| Pulmonary Disease Chronic Obstructive |
Associate |
28331304 |
| Pulmonary Embolism |
Associate |
33825327 |
| Sjogren's Syndrome |
Inhibit |
33660820 |
| Skin Diseases |
Associate |
10767822 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
30118659, 34144901 |
| Stomach Neoplasms |
Associate |
26434839, 27058427 |
| Stroke |
Associate |
29545349 |
| Tarlov Cysts |
Associate |
30148861 |
| Thymoma |
Associate |
35802752 |
| Thyroid Cancer Papillary |
Associate |
37158852 |
| Tuberculosis |
Associate |
28794177 |
| Tuberculosis Multidrug Resistant |
Associate |
22190510 |
| Urethral Neoplasms |
Associate |
12216092 |
| Urinary Bladder Neoplasms |
Associate |
15300799, 17982131, 37958747 |
| Uterine Cervical Neoplasms |
Associate |
23925487 |
| Ventricular Fibrillation |
Associate |
10767822, 2176481 |
| Virus Diseases |
Associate |
36148234 |
|