| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Atopic eczema |
Likely pathogenic |
rs1057518775 |
RCV000415398 |
| Diabetes |
Likely pathogenic; Pathogenic |
rs80356611 |
RCV004798749 |
| Diabetes mellitus |
Pathogenic; Likely pathogenic |
rs587783673, rs587783672, rs587783669, rs80356625, rs193929355 |
RCV000146117 RCV000146115 RCV000146107 RCV000146113 RCV000146122 |
| Diabetes mellitus, permanent neonatal 2 |
Likely pathogenic; Pathogenic |
rs141145502, rs587783673, rs80356624, rs80356616, rs80356625, rs80356611, rs74339576, rs267607196, rs2496411976, rs766891274 |
RCV002501960 RCV003338421 RCV001089463 RCV000009201 RCV001089465 RCV001089464 RCV005042016 RCV005042017 RCV003387624 RCV002481620 RCV003387732 |
| Diabetes mellitus, transient neonatal, 3 |
Likely pathogenic; Pathogenic |
rs141145502, rs587783672, rs80356624, rs80356625, rs80356613, rs74339576, rs267607196, rs766891274, rs954727530, rs1371185696 |
RCV002501960 RCV001329964 RCV000009200 RCV001530196 RCV000009219 RCV005042016 RCV000763231 RCV002481620 RCV005430771 RCV005430432 |
| Familial hyperinsulinism |
Likely pathogenic; Pathogenic |
rs1554901747, rs775204908, rs377091338, rs1479483693, rs267607196, rs954727530, rs1371185696 |
RCV005912928 RCV005432803 RCV005925571 RCV005238142 RCV005417424 RCV005431867 RCV005901446 |
| Hyperinsulinemia |
Pathogenic; Likely pathogenic |
rs80356624, rs1057518775 |
RCV002227021 RCV000415398 |
| Hyperinsulinemic hypoglycemia, familial, 2 |
Likely pathogenic; Pathogenic |
rs1554901747, rs141145502, rs797045637, rs104894237, rs74339576, rs267607196, rs2496407300, rs766891274, rs954727530, rs1371185696 |
RCV001506970 RCV002501960 RCV000194466 RCV000009210 RCV000009220 RCV000009223 RCV004576141 RCV000503978 RCV005430771 RCV005430432 |
| Hypertrichosis |
Likely pathogenic |
rs1057518775 |
RCV000415398 |
| Hypoglycemia |
Likely pathogenic |
rs1057518775 |
RCV000415398 |
| KCNJ11-related disorder |
Likely pathogenic; Pathogenic |
rs775204908, rs80356616, rs80356611 |
RCV003336445 RCV005867735 RCV003335022 |
| Maturity-onset diabetes of the young |
Likely pathogenic; Pathogenic |
rs587783672, rs80356625, rs104894237, rs74339576, rs267607196, rs1371185696 |
RCV002227076 RCV002227023 RCV002226640 RCV002227030 RCV002226646 RCV002227197 |
| Maturity-onset diabetes of the young type 13 |
Likely pathogenic; Pathogenic |
rs1554901747, rs141145502, rs587783672, rs74339576, rs267607196, rs766891274, rs1564865302 |
RCV004719070 RCV002501960 RCV000170299 RCV005042016 RCV000763231 RCV002481620 RCV000754813 |
| Monogenic diabetes |
Likely pathogenic; Pathogenic |
rs954727530 |
RCV002225111 |
| Neonatal diabetes mellitus |
Likely pathogenic; Pathogenic |
rs115716690, rs2133379609, rs193929358, rs587783672, rs80356624, rs80356616, rs80356625, rs80356611 |
RCV002052018 RCV002052019 RCV002052020 RCV002051813 RCV002051777 RCV002051778 RCV002051779 RCV000030103 |
| Neonatal insulin-dependent diabetes mellitus |
Pathogenic; Likely pathogenic |
rs587783670, rs587783674, rs80356624, rs80356616, rs193929356 |
RCV000146108 RCV000146121 RCV000146114 RCV000146104 RCV000146124 |
| Permanent neonatal diabetes mellitus |
Likely pathogenic; Pathogenic |
rs141145502, rs2133380076, rs80356624, rs80356616, rs80356625, rs80356611, rs267607196, rs193929355, rs193929356 |
RCV001832822 RCV005922713 RCV000009198 RCV000030665 RCV000009202 RCV000009205 RCV000763231 RCV000020360 RCV000020361 RCV002222331 |
| Permanent neonatal diabetes mellitus 1 |
Pathogenic; Likely pathogenic |
rs74339576, rs954727530, rs1371185696 |
RCV005430458 RCV005430771 RCV005430432 |
| Transitory neonatal diabetes mellitus |
Pathogenic |
rs80356616, rs80356625, rs193929355 |
RCV002227022 RCV002227024 RCV002227047 |
| Type 2 diabetes mellitus |
Likely pathogenic; Pathogenic |
rs141145502, rs587783673, rs104894237, rs74339576, rs267607196, rs2496407839, rs2496409870, rs2496410962, rs2496408893, rs2496411567, rs2496407871, rs2496410564, rs2496409508, rs2496409024, rs1554901822, rs193929356, rs766891274, rs954727530 View all (3 more) |
RCV002501960 RCV002226687 RCV003466840 RCV003460444 RCV000763231 RCV003461768 RCV003461769 RCV003469879 RCV003461771 RCV003461772 RCV003469880 RCV003461773 RCV003461774 RCV004576767 RCV004576768 RCV004576769 RCV002226652 RCV002481620 RCV003459641 |
|
| Disease Name |
Relationship Type |
References |
| Alcohol Related Disorders |
Associate |
27223594 |
| Amyotrophic Lateral Sclerosis |
Associate |
29492846 |
| Anxiety Disorders |
Associate |
27086753 |
| Arrhythmias Cardiac |
Associate |
24222218 |
| Arteriolosclerosis |
Associate |
24135527 |
| Atrial Fibrillation |
Inhibit |
11693772 |
| Atrial Remodeling |
Associate |
18504616 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
27555491 |
| Autism Spectrum Disorder |
Associate |
30377186 |
| Beckwith Wiedemann Syndrome |
Associate |
27173951, 36339418 |
| Cantu syndrome |
Associate |
31119887 |
| Cardiomyopathy Dilated |
Associate |
18504616, 24222218 |
| Central Nervous System Diseases |
Associate |
30377186 |
| Cerebral Infarction |
Associate |
37777789, 39826584 |
| Channelopathies |
Associate |
30092901 |
| Cognition Disorders |
Associate |
34732776 |
| Cognitive Dysfunction |
Associate |
27223594 |
| Colonic Neoplasms |
Associate |
36273131 |
| Colorectal Neoplasms |
Associate |
21602532 |
| Congenital Abnormalities |
Associate |
15115830 |
| Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency |
Associate |
33633334 |
| Congenital Hyperinsulinism |
Associate |
11018078, 11228046, 11395395, 20943779, 20980454, 21411514, 21536946, 21716120, 21968111, 23266803, 23275527, 23345197, 23563683, 23665564, 23869231, 24932607, 25008049, 26316440, 26758964, 27173951, 27181099, 27573238, 28663158, 29087246, 29739729, 30462810, 31218401, 31464105, 32203961, 33762279, 34253504, 34633981, 34927408, 36339418, 39741883, 9769320 View all (21 more) |
| Coronary Artery Disease |
Inhibit |
20628649 |
| Coronary Artery Disease |
Associate |
34385509, 35222579, 37175633 |
| Coronary Disease |
Associate |
37175633 |
| Death Sudden Cardiac |
Associate |
24222218 |
| Developmental Defects of Enamel |
Associate |
34732776 |
| Developmental Delay Epilepsy and Neonatal Diabetes |
Associate |
16609879, 18073297, 20049716, 22694282, 28083968, 28480665, 28943513, 34999583 |
| Developmental Disabilities |
Associate |
15115830, 16609879, 19139106, 20022885, 27223594, 27555491, 28943513, 30092901, 34999583 |
| Diabetes Complications |
Associate |
27802092 |
| Diabetes Gestational |
Associate |
30239167, 36313769, 37107681 |
| Diabetes Mellitus |
Associate |
16268330, 16609879, 16885549, 16885550, 17213273, 17259403, 17446535, 18025464, 18073297, 18662362, 19656320, 19951851, 20194712, 20548773, 20929593, 21674179, 21953423, 22694282, 22701567, 22796691, 22815030, 22855734, 23462667, 24018988, 25231897, 25375650, 25755231, 25877689, 26958039, 27033559, 27223594, 27540106, 27555491, 27802092, 27889714, 28387875, 28667717, 28938416, 28943514, 29034901, 29329106, 30169531, 30377186, 30890782, 31196892, 31291970, 31605659, 32792356, 32820876, 33498041, 33885251, 34254494, 34566892, 34732776, 36181023, 36208030, 36360783, 36418577, 37251668, 38408297, 39273144 View all (46 more) |
| Diabetes Mellitus Permanent Neonatal |
Associate |
15115830, 17213273, 17327377, 17446535, 17668386, 17728498, 18162506, 19496967, 19656320, 20220270, 21273495, 21544516, 22796691, 23050777, 23320570, 25231897, 25755231, 26958039, 27033559, 27098067, 28083968, 28943514, 29880308, 30377186, 31908791, 33885251, 34696808, 37251668 View all (13 more) |
| Diabetes Mellitus Transient Neonatal 1 |
Associate |
15115830, 16268330, 16609879, 16885549, 17327377, 17446535, 17728498, 18025408, 18073297, 18346985, 18497752, 18556340, 19139106, 19435956, 19951851, 20022885, 20049716, 20980454, 22187380, 22694282, 22796691, 22855734, 23665564, 25028140, 25231897, 25877689, 26208381, 27033559, 27086753, 27223594, 27477181, 27555491, 27889714, 28083968, 28663158, 28766502, 28943513, 28943514, 29361385, 29880308, 30092901, 30890782, 31908791, 33148726, 33498041, 33837025, 34254494, 34732776, 34999583, 35612844, 36047384, 37251668 View all (37 more) |
| Diabetes Mellitus Type 1 |
Associate |
21544516, 28938416, 29361385, 30467975, 36418577 |
| Diabetes Mellitus Type 2 |
Associate |
14551916, 17020404, 17259403, 17463248, 18426861, 18598350, 18678618, 19020324, 19033397, 19368707, 19401414, 19491206, 19766903, 19862325, 20142250, 20194712, 20424228, 20548773, 21602532, 22163043, 22187380, 22289434, 22389004, 22558147, 22569928, 22701567, 24018988, 24376643, 25368101, 25573672, 27253191, 28387875, 28587604, 28805561, 28934129, 30467975, 30760653, 31123324, 31195986, 31638168, 33046911, 33426802, 33633334, 33752320, 33848288, 34289004, 34462253, 35592779, 36181023, 36208030, 36401380, 37234928 View all (37 more) |
| Diabetic Ketoacidosis |
Associate |
28173619, 31605659, 34566892, 39420905 |
| Diabetic Nephropathies |
Associate |
36314849 |
| Diabetic Neuropathies |
Associate |
27253191 |
| Diabetic Retinopathy |
Associate |
25573672, 35996512 |
| Drug Hypersensitivity |
Associate |
20980454 |
| Drug Resistant Epilepsy |
Associate |
21674179 |
| Epilepsy |
Associate |
15115830, 19139106, 20022885, 22694282, 23462667, 26268944, 28943513, 36097778 |
| Facial Hemihypertrophy |
Associate |
27173951 |
| Fetal Macrosomia |
Associate |
21674179 |
| Genetic Diseases Inborn |
Associate |
32792356, 38408297 |
| Glioma |
Associate |
35581384 |
| Glucose Intolerance |
Associate |
17259403, 30239167 |
| Heart Failure |
Associate |
18504616, 19685080, 24222218, 25114062 |
| HIV Infections |
Inhibit |
28398593 |
| Hyperglycemia |
Inhibit |
23985558 |
| Hyperinsulinism |
Associate |
20049716, 20980454, 25555642, 29034901, 29493090, 31464105, 33502730, 33762279, 35674212 |
| Hypertension |
Associate |
18504616, 21765448 |
| Hypoglycemia |
Associate |
31464105, 35456451 |
| hypoglycemic encephalopathy |
Associate |
29087246 |
| Hypokalemic Periodic Paralysis |
Inhibit |
20396605 |
| Infant Newborn Diseases |
Associate |
34999583 |
| Insulinoma |
Associate |
33633334, 37107681, 39536727 |
| Intellectual Disability |
Associate |
23462667 |
| Ketosis |
Associate |
16885550 |
| Klinefelter Syndrome |
Associate |
28766502 |
| Learning Disabilities |
Associate |
22855734, 27555491, 34732776 |
| Leiomyoma |
Associate |
18569028 |
| Lymphedema |
Associate |
36410788 |
| Major Affective Disorder 2 |
Associate |
21544516 |
| Mason Type Diabetes |
Associate |
20194712, 30760653 |
| Maturity Onset Diabetes of the Young Type 1 |
Associate |
34826540 |
| Memory Disorders |
Associate |
30377186 |
| Mental Disorders |
Associate |
27086753, 27555491 |
| Microphthalmia Isolated 1 |
Associate |
27173951 |
| Microvascular Angina |
Associate |
24068186 |
| Motor Disorders |
Associate |
18073297 |
| Mucocutaneous Lymph Node Syndrome |
Associate |
20628649 |
| Muscle Weakness |
Associate |
15115830 |
| Myocardial Ischemia |
Associate |
24068186 |
| Myocardial Ischemia |
Inhibit |
37175633 |
| Myocardial Stunning |
Associate |
19729596 |
| Neoplasms Germ Cell and Embryonal |
Associate |
11395395 |
| Nervous System Diseases |
Associate |
22855734 |
| Neuroendocrine Tumors |
Associate |
39536727 |
| Neurologic Manifestations |
Associate |
20022885, 22694282, 26268944, 27555491 |
| Obesity |
Associate |
20712903, 25612568 |
| Pancreatic Neoplasms |
Inhibit |
28938416 |
| Pancreatitis |
Associate |
36410788 |
| Pediatric Obesity |
Associate |
27540106 |
| Polycystic Ovary Syndrome |
Associate |
22389004 |
| Prediabetic State |
Associate |
22163043 |
| Pseudoacromegaly with Severe Insulin Resistance |
Associate |
38408297 |
| Respiratory System Abnormalities |
Associate |
30092901 |
| Seizures |
Associate |
34732776 |
| Sleep Apnea Syndromes |
Associate |
30092901 |
| Sleep Wake Disorders |
Stimulate |
27555491 |
| Somatoform Disorders |
Associate |
11395395 |
| Stomach Diseases |
Associate |
32581184 |
| Stroke |
Associate |
37777789 |
| Stroke |
Inhibit |
39826584 |
| Syndrome |
Associate |
23462667 |
| Uniparental Disomy |
Associate |
27173951, 36339418 |
| Vitamin K Deficiency |
Associate |
20396605 |
|