| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Epilepsy |
Benign; Likely benign |
rs143031509 |
RCV005626743 |
| Epileptic encephalopathy |
Uncertain significance |
rs1060499671 |
RCV000449521 |
| Familial cancer of breast |
Likely benign; Benign |
rs138345294, rs370410785, rs78165041 |
RCV005916022 RCV005932058 RCV005904816 |
| Hereditary skeletal muscle disorder |
Conflicting classifications of pathogenicity |
rs202138276 |
RCV005626448 |
| Intellectual disability |
Uncertain significance |
rs1557247562 |
RCV005626805 |
| Lung cancer |
Likely benign |
rs138345294 |
RCV005916023 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2073178, rs2073177 |
RCV005902167 RCV005902165 |
| Optic atrophy |
Likely benign |
rs781845619 |
RCV004817068 |
| PGK1-related disorder |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs2078363321, rs148399096, rs782751239, rs143031509, rs187714418, rs150956842, rs782807093, rs431905502, rs1045428290, rs2078363408, rs2522502101, rs782014533, rs782668224, rs781839243, rs146350576, rs142525614 View all (1 more) |
RCV001825179 RCV004548251 RCV004550363 RCV004550404 RCV004548311 RCV004548326 RCV004738593 RCV004724732 RCV004548658 RCV004550733 RCV004550697 RCV004548741 RCV004550067 RCV004551714 RCV004553510 RCV004553511 |
| Phosphoglycerate kinase electrophoretic variant PGK II |
other |
rs137852530 |
RCV000010623 |
| Profound global developmental delay |
Uncertain significance |
rs1060499671 |
RCV000449521 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs138345294, rs150219676 |
RCV005916024 RCV005917804 |
| Uveal melanoma |
Benign |
rs2073178, rs2073177 |
RCV005902166 RCV005902164 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
14573703, 34814273 |
| Adenocarcinoma |
Stimulate |
27150162 |
| Adenocarcinoma of Lung |
Associate |
14573703 |
| Altitude Sickness |
Associate |
33393624 |
| Anemia Hemolytic |
Associate |
16412025, 39787833 |
| Astrocytoma |
Associate |
22742733 |
| Bone Diseases Metabolic |
Associate |
22619369 |
| Bone Marrow Diseases |
Associate |
24376734 |
| Brain Diseases Metabolic Inborn |
Associate |
39787833 |
| Breast Neoplasms |
Associate |
16048908, 30537744, 31578148, 32028979, 32070368, 33597614, 34600547, 34790279, 34868337, 35441810, 36077333, 36860848, 37190091, 37986376, 39192221, 39684297 View all (1 more) |
| Breast Neoplasms |
Stimulate |
25867275, 36388159 |
| Carcinogenesis |
Associate |
32489020, 39456901, 39684297 |
| Carcinoma Adenoid Cystic |
Associate |
37741973 |
| Carcinoma Hepatocellular |
Associate |
19200351, 28749413 |
| Carcinoma Pancreatic Ductal |
Associate |
32241274, 38098044 |
| Carcinoma Renal Cell |
Associate |
33564363 |
| Carcinosarcoma |
Associate |
32439920 |
| Cataract |
Associate |
34055996 |
| Cataract Age Related Nuclear |
Associate |
34055996 |
| Cell Transformation Neoplastic |
Associate |
38098044 |
| Chordoma |
Associate |
38282590 |
| Chronic Disease |
Associate |
34975312 |
| Cleft palate X linked |
Associate |
1570839 |
| Colonic Neoplasms |
Associate |
18603805 |
| Death |
Associate |
32241274 |
| Developmental Disabilities |
Associate |
16740138 |
| Diabetes Mellitus |
Associate |
19582723 |
| Dystonia 3 Torsion X Linked |
Associate |
1550125 |
| Ectodermal Dysplasia |
Associate |
1357963 |
| Ectodermal Dysplasia 1 Anhidrotic |
Associate |
3163892 |
| Endometrial Neoplasms |
Associate |
32439920 |
| Esophageal Squamous Cell Carcinoma |
Associate |
36966136 |
| Fatigue |
Associate |
16740138 |
| Gallbladder Neoplasms |
Inhibit |
26656369 |
| Gastrointestinal Diseases |
Associate |
35008842 |
| Glioblastoma |
Associate |
37408007 |
| Glioma |
Associate |
32565733 |
| Hemophilia A |
Associate |
34445777 |
| Hypoxia |
Associate |
27625398, 33941139 |
| Hypoxia |
Stimulate |
27765905, 36230969 |
| Hypoxia Brain |
Associate |
32593213, 37408007 |
| Immunologic Deficiency Syndromes |
Associate |
39787833 |
| Lung Diseases |
Associate |
27625398 |
| Lymphoma |
Associate |
20037605 |
| Metabolism Inborn Errors |
Associate |
16412025 |
| Metabolism Inborn Errors |
Inhibit |
39787833 |
| Muscle Weakness |
Associate |
39787833 |
| Muscular Diseases |
Associate |
20151463, 22348148, 31658606 |
| Necrosis |
Associate |
31767834 |
| Neoplasm Metastasis |
Associate |
28749413, 29954422, 32028979, 39192221 |
| Neoplasm Metastasis |
Stimulate |
30537744, 39315723 |
| Neoplasms |
Associate |
18401453, 19582723, 19688824, 23684136, 24376734, 25734817, 28749413, 29995887, 31578148, 32070368, 34668665, 34790279, 35502531, 38098044, 39315723, 39456901, 39684297 View all (2 more) |
| Neoplasms |
Stimulate |
30537744 |
| Neoplasms |
Inhibit |
37408007 |
| Neoplasms Squamous Cell |
Associate |
14573703 |
| Neuroblastoma |
Associate |
24376734, 27765905 |
| Neuroendocrine Tumors |
Associate |
34712204 |
| Neurologic Manifestations |
Associate |
16412025, 16740138, 39787833 |
| Neuromuscular Diseases |
Associate |
39787833 |
| Obesity |
Associate |
37894825 |
| Osteoarthritis |
Associate |
22619369 |
| Osteopenic Nonfracture Syndrome |
Associate |
22619369 |
| Ovarian Neoplasms |
Associate |
25096996 |
| Pancreatic Neoplasms |
Associate |
19582723, 36807568 |
| Pancreatitis Chronic |
Associate |
19582723 |
| Peritoneal Neoplasms |
Stimulate |
19688824 |
| Peritonitis |
Associate |
19688824 |
| Phosphoglycerate Kinase 1 Deficiency |
Associate |
16412025, 16740138, 20151463, 22348148, 31658606 |
| Precancerous Conditions |
Associate |
34790279 |
| Prostatic Neoplasms |
Associate |
19893039, 22805767, 29954422, 37894825 |
| Pulmonary Arterial Hypertension |
Stimulate |
35960497 |
| Rhegmatogenous Retinal Detachment Autosomal Dominant |
Associate |
29641463 |
| Seizures |
Associate |
16740138 |
| Severe Combined Immunodeficiency |
Associate |
2565084, 8317482 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
33941139, 34599215, 34668665, 38035710, 38256104, 39456901 |
| Squamous Intraepithelial Lesions |
Associate |
16436642 |
| Stomach Neoplasms |
Associate |
19688824, 31578148, 36684675 |
| Triple Negative Breast Neoplasms |
Associate |
32350346, 36077333, 40634657 |
| Triple Negative Breast Neoplasms |
Stimulate |
37190091 |
| Urethral Neoplasms |
Associate |
36292976 |
| Urinary Bladder Neoplasms |
Stimulate |
39315723 |
| X Linked Combined Immunodeficiency Diseases |
Associate |
2565084 |
|