| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Monogenic Non-Syndromic Obesity |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs886060874, rs886060876, rs2882298, rs6556922, rs373852338, rs886060882, rs373041583, rs886060885, rs6234, rs6236, rs538803955, rs199951150, rs886060877, rs189919167, rs182581645, rs886060879, rs886060880, rs867846512, rs17085675, rs772439505, rs3811942, rs886060887, rs886060888, rs6233, rs200969251, rs35753085, rs886060889, rs142567487, rs558370034, rs10515236, rs886060878, rs886060883, rs5869716, rs115434587, rs886060884, rs886060886, rs6235, rs755372795, rs142097318, rs373951075, rs6231, rs142423997, rs6230, rs886060875, rs886060881, rs34572181, rs199524465, rs200973203, rs769203665, rs188670849, rs886060890 View all (36 more) |
RCV000342865 RCV000333819 RCV000342580 RCV000307358 RCV000272141 RCV000323230 RCV000260656 RCV000331249 RCV000397598 RCV000298180 RCV000397585 RCV000395731 RCV000270498 RCV000290620 RCV000279298 RCV000395776 RCV000370187 RCV000259909 RCV000374499 RCV000294746 RCV000318486 RCV000383668 RCV000291728 RCV000368049 RCV000328137 RCV000323901 RCV000318260 RCV000349980 RCV000299659 RCV000384857 RCV000376944 RCV000387259 RCV000345988 RCV000358756 RCV000305580 RCV000288016 RCV000304198 RCV000322441 RCV000334856 RCV000390603 RCV000313031 RCV000307699 RCV000371861 RCV000353213 RCV000358567 RCV000406522 RCV000363149 RCV000283894 RCV000272404 RCV000358669 RCV000404347 |
| Thymoma |
Benign |
rs3792746 |
RCV005919757 |
| Uterine corpus endometrial carcinoma |
Uncertain significance |
rs527304866 |
RCV005926446 |
|
| Disease Name |
Relationship Type |
References |
| Acidosis |
Associate |
34068683 |
| ACTH Secreting Pituitary Adenoma |
Associate |
17917309, 31319379 |
| Adenocarcinoma |
Associate |
34646089 |
| Alopecia Neurologic Defects and Endocrinopathy Syndrome |
Associate |
34068683, 36822744 |
| Alzheimer Disease |
Associate |
32967721, 34393677 |
| Atrial Fibrillation |
Associate |
31959406 |
| Autism Spectrum Disorder |
Associate |
33387879, 34573415 |
| Autoimmune enteropathy |
Associate |
32081864 |
| Breast Neoplasms |
Associate |
36705562 |
| Carcinoid Tumor |
Associate |
1547893 |
| Cerebral Hemorrhage |
Associate |
34780106 |
| Cognition Disorders |
Inhibit |
32967721 |
| Colorectal Neoplasms |
Associate |
21251323, 26446941, 34608882 |
| Coronary Artery Disease |
Associate |
24489861 |
| Diabetes Insipidus |
Associate |
24280991 |
| Diabetes Insipidus Neurogenic |
Associate |
23562752 |
| Diabetes Mellitus |
Associate |
23383060, 24932808, 36997916 |
| Diabetes Mellitus Type 1 |
Inhibit |
28877460 |
| Diabetes Mellitus Type 1 |
Associate |
31442418 |
| Diabetes Mellitus Type 2 |
Associate |
22389004, 23890480, 24489861, 24705588, 31250990, 36822744 |
| Diabetes Mellitus Type 2 |
Inhibit |
25892189 |
| Diarrhea |
Associate |
25272002 |
| Diarrhea 4 Malabsorptive Congenital |
Associate |
23562752, 24280991, 34068683 |
| Disruptive Impulse Control and Conduct Disorders |
Associate |
34097736 |
| Dwarfism Pituitary |
Associate |
23562752 |
| Dyslipidemias |
Associate |
31250990 |
| Enteritis |
Associate |
25272002 |
| Eunuchism |
Associate |
23562752 |
| Glucose Intolerance |
Associate |
21935364, 28271036 |
| Glucose Metabolism Disorders |
Associate |
20534142 |
| Growth Disorders |
Associate |
23562752 |
| Hemorrhagic Fever with Renal Syndrome |
Associate |
35059462 |
| Hyperglycemia |
Inhibit |
23985558 |
| Hyperphagia |
Associate |
23562752, 24280991 |
| Immunologic Deficiency Syndromes |
Associate |
34068683 |
| Inflammation |
Inhibit |
31442418 |
| Inflammation |
Associate |
34780106 |
| Insulin Resistance |
Associate |
19875984 |
| Lung Neoplasms |
Associate |
1547893, 23409034, 9166946 |
| Malabsorption Syndromes |
Associate |
23562752 |
| Mental Disorders |
Associate |
31600226 |
| Metabolic Diseases |
Associate |
23383060, 37761915 |
| Metabolic Syndrome |
Associate |
37761915 |
| Neoplasm Metastasis |
Associate |
16293189 |
| Neoplasms |
Associate |
16293189, 30673970, 34671197 |
| Neoplasms |
Stimulate |
23409034, 33299884 |
| Nonsyndromic Holoprosencephaly |
Associate |
1547893 |
| Obesity |
Associate |
19164386, 19528091, 19875984, 20498726, 20534142, 21311511, 21720444, 21873549, 22210313, 22737226, 23383060, 23562752, 23800642, 24135795, 24626232, 24932808, 26680480, 27421018, 28271036, 28377240, 29220676, 29726959, 30926952, 30991789, 33299884, 34068683, 34097736, 35026759, 35442499, 35741707, 35963866, 36822744, 36864747, 36997916, 37761915, 39743445 View all (21 more) |
| Obesity Morbid |
Associate |
28377240 |
| Osteoarthritis |
Inhibit |
39261869 |
| Overweight |
Associate |
20498726, 26680480 |
| Penis agenesis |
Associate |
24280991 |
| Polycystic Kidney Autosomal Dominant |
Associate |
29706351 |
| Polycystic Ovary Syndrome |
Associate |
22389004, 28271036, 31250990 |
| Prader Willi Syndrome |
Associate |
35442499 |
| Primary Immunodeficiency Diseases |
Associate |
32081864 |
| Proprotein Convertase 1 3 Deficiency |
Associate |
23562752 |
| Proprotein Convertase 1 3 Deficiency |
Inhibit |
24135795 |
| Prostatic Neoplasms |
Associate |
27835608 |
| Prostatic Neoplasms |
Stimulate |
34646089 |
| Prostatitis |
Associate |
26011939 |
| Sarcoma Alveolar Soft Part |
Associate |
19146682 |
| Small Cell Lung Carcinoma |
Associate |
1547893, 9166946 |
| Urinary Bladder Neoplasms |
Inhibit |
40531358 |
| Weight Loss |
Associate |
39743445 |
|