| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Amenorrhea |
Conflicting classifications of pathogenicity |
rs139295139 |
RCV001849309 |
| Delayed puberty |
Benign; Likely benign |
rs138952094 |
RCV000156947 |
| Familial cancer of breast |
Benign |
rs150288942 |
RCV005903538 |
| Gastric cancer |
Benign |
rs150288942 |
RCV005903540 |
| Hepatocellular carcinoma |
Benign |
rs150288942 |
RCV005903539 |
| Hypogonadotropic hypogonadism 16 with or without anosmia |
risk factor; Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs1404070020, rs553661856, rs919402688, rs137871935, rs147436181, rs2484774376, rs138694505, rs36026860, rs318240751, rs318240753, rs139295139 |
RCV001785416 RCV001785417 RCV001785418 RCV003992769 RCV000032921 RCV000032922 RCV002489291 RCV000987902 RCV000987901 RCV001262880 RCV000987903 |
| Male infertility with azoospermia or oligozoospermia due to single gene mutation |
Conflicting classifications of pathogenicity |
rs137871935 |
RCV003991595 |
| Martsolf syndrome 1 |
Uncertain significance |
rs318240752 |
RCV002305443 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs150288942 |
RCV005903541 |
| See cases |
Conflicting classifications of pathogenicity |
rs747485179 |
RCV003128436 |
| SEMA3A-related disorder |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs74349534, rs553661856, rs766918295, rs138952094, rs776695769, rs756376042, rs746952334, rs762141269, rs200588059, rs749954349, rs142028375, rs148900275, rs557001005, rs749759577, rs549486833, rs78084522, rs748598600, rs144701441, rs750562959, rs780116106, rs377259138, rs137871935, rs752428221, rs1343011334, rs758392343, rs750492355, rs535486545, rs762465901, rs1226105531, rs755957480, rs35078268, rs369709964, rs117178023, rs561754532, rs150613141, rs1381262195, rs373363078, rs1344080312, rs1789588025, rs149953379, rs771077834, rs148134924, rs201612526, rs1156471098, rs754608912, rs143007146, rs376482788, rs892954382, rs778914985, rs372888867, rs1406744026, rs138570323, rs760813806, rs146698230, rs150445380, rs927715765, rs1022905802, rs140867543, rs138694505, rs144851761, rs142186928, rs201176123, rs76198750, rs376837957, rs34652029, rs144566280, rs139951141, rs150285912, rs114039303, rs144690677, rs184604091, rs1056198853, rs771847294, rs36026860, rs199979628, rs318240751, rs318240753, rs139295139 View all (63 more) |
RCV003976077 RCV004749740 RCV004749764 RCV003965171 RCV003418717 RCV004749925 RCV004749928 RCV004750310 RCV003395642 RCV003900901 RCV003396851 RCV003396866 RCV003417902 RCV003410333 RCV003966325 RCV003399752 RCV003412033 RCV003414102 RCV003417035 RCV003408679 RCV003417133 RCV003410719 RCV003419260 RCV003391399 RCV003427952 RCV003399618 RCV003410397 RCV003410406 RCV003392842 RCV003422482 RCV003956506 RCV004750423 RCV003981152 RCV003896629 RCV003894586 RCV003893794 RCV003896435 RCV003896437 RCV003902225 RCV003894446 RCV003901656 RCV003913892 RCV003959796 RCV003944746 RCV003924659 RCV003979221 RCV003976908 RCV003983726 RCV003947319 RCV003969849 RCV003967033 RCV003967150 RCV003969464 RCV003969011 RCV003962208 RCV003966848 RCV003976421 RCV004750466 RCV004750467 RCV003903167 RCV003957985 RCV003910452 RCV003940554 RCV003968299 RCV003912978 RCV003958132 RCV003910719 RCV003950587 RCV004749546 RCV003942836 RCV003970499 RCV003895677 RCV004749553 RCV003983288 RCV003964917 RCV003407448 RCV003407449 RCV003415832 RCV003952488 |
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate |
24756974 |
| Alcoholism |
Associate |
29071344 |
| Alzheimer Disease |
Associate |
33663605 |
| Arrhythmias Cardiac |
Associate |
24963029 |
| Arthritis |
Associate |
22697500 |
| Arthritis Rheumatoid |
Inhibit |
23343469 |
| Arthritis Rheumatoid |
Associate |
28775366 |
| Arthritis Rheumatoid |
Stimulate |
30538782 |
| Bone Diseases |
Associate |
25336945 |
| Breast Neoplasms |
Associate |
18787945, 20655307, 29971782, 31929841, 38263416 |
| Breast Neoplasms |
Stimulate |
25973043 |
| Brugada Syndrome |
Associate |
24963029 |
| Cartilage Diseases |
Associate |
36430655 |
| Choroidal Neovascularization |
Associate |
33876574 |
| Colorectal Neoplasms |
Associate |
36510452 |
| Combined Pituitary Hormone Deficiency |
Associate |
32612575 |
| Congenital anosmia |
Associate |
29255181 |
| Crohn Disease |
Inhibit |
25978359 |
| Death Sudden Cardiac |
Associate |
24963029 |
| Dermatitis |
Stimulate |
33905439 |
| Dermatitis Atopic |
Associate |
33905439, 36075451 |
| Dermatomyositis |
Inhibit |
36012289 |
| Diabetic Nephropathies |
Associate |
24756974 |
| Diabetic Nephropathies |
Stimulate |
36583231 |
| Endometriosis |
Associate |
26720585 |
| Erectile Dysfunction |
Associate |
38111702 |
| Exanthema |
Associate |
31394943 |
| Glioma |
Associate |
35148403 |
| Growth Disorders |
Associate |
32612575, 33369061 |
| Heart Arrest |
Associate |
23593010 |
| Heart Defects Congenital |
Associate |
33369061 |
| HEM dysplasia |
Associate |
33369061 |
| Hepatitis C Chronic |
Stimulate |
30592759 |
| Hirschsprung Disease |
Associate |
21898659, 23372769 |
| Hypertension |
Associate |
24756974 |
| Hypogonadism |
Associate |
26199944, 32612575, 33369061, 35295983 |
| Inflammation |
Associate |
25978359, 31394943, 39375631 |
| Inflammatory Bowel Diseases |
Associate |
25978359 |
| Kallmann Syndrome |
Associate |
29255181, 33369061 |
| Kidney Diseases |
Associate |
22697500, 24756974, 31394943 |
| Leukemia |
Associate |
18056484, 30378769 |
| Leukemia Myeloid Acute |
Stimulate |
26043758 |
| Leukemia Myeloid Acute |
Associate |
30378769 |
| Lupus Erythematosus Systemic |
Associate |
22697500, 31394943 |
| Lymphatic Metastasis |
Inhibit |
25197349 |
| Macular Degeneration |
Associate |
33876574 |
| Malformations of Cortical Development Group I |
Stimulate |
11331362 |
| Mobius Syndrome |
Associate |
31033088 |
| Monoclonal Gammopathy of Undetermined Significance |
Associate |
16684957 |
| Multiple Myeloma |
Associate |
16684957 |
| Musculoskeletal Abnormalities |
Associate |
33369061 |
| Neoplasm Metastasis |
Associate |
22926477, 25197349, 25973043 |
| Neoplasms |
Associate |
14656993, 24264315, 29740048, 36296971 |
| Neoplasms |
Inhibit |
18787945, 25197349, 30378769 |
| Neoplasms Mesothelial |
Inhibit |
14656993 |
| Olfaction Disorders |
Associate |
29255181, 33369061 |
| Oral Ulcer |
Associate |
31394943 |
| Osteoarthritis |
Associate |
36430655 |
| Prostatic Neoplasms |
Associate |
24264315, 29740048 |
| Proteinuria |
Stimulate |
24756974 |
| Prurigo |
Associate |
36075451 |
| Pruritus |
Associate |
33905439, 36075451 |
| Renal Insufficiency Chronic |
Associate |
24756974 |
| Sick Sinus Syndrome |
Associate |
23593010 |
| Small Fiber Neuropathy |
Associate |
36012289 |
| Stomach Neoplasms |
Inhibit |
25197349 |
| Tongue Neoplasms |
Inhibit |
22926477 |
| Ventricular Dysfunction Left |
Associate |
39375631 |
| Ventricular Fibrillation |
Associate |
23593010 |
| Wounds and Injuries |
Associate |
36583231 |
|