| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| - |
no classification for the single variant |
rs12594375, rs8023503 |
- |
| Cholangiocarcinoma |
Benign |
rs6080 |
RCV005893403 |
| Diabetes mellitus type 2, susceptibility to |
Benign |
rs2070895 |
RCV000015539 |
| Gastric cancer |
Benign |
rs6080 |
RCV005893400 |
| Hepatocellular carcinoma |
Benign |
rs4774305 |
RCV005917390 |
| High density lipoprotein cholesterol level quantitative trait locus 12 |
Conflicting classifications of pathogenicity; Uncertain significance; association; Benign; Likely benign |
rs184587533, rs575306493, rs767952446, rs752423767, rs145811475, rs768409840, rs1893340418, rs372553692, rs137926228, rs113298164, rs1800588, rs2070895, rs140272400 |
RCV003228002 RCV003336506 RCV002468875 RCV006261789 RCV003228622 RCV003228642 RCV003228653 RCV003228659 RCV003336603 RCV003227602 RCV000015538 RCV000015540 RCV002504083 |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 |
Uncertain significance |
rs2140922013 |
RCV001837070 |
| LIPC-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign |
rs1893623220, rs939351730, rs776858148, rs140272400, rs768982423, rs113174258, rs142036980 |
RCV004759003 RCV003959247 RCV003930365 RCV003972349 RCV003957637 RCV003935976 RCV003950731 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs6080 |
RCV005893401 |
| Sarcoma |
Benign |
rs6080 |
RCV005893399 |
| Thymoma |
Benign |
rs6080 |
RCV005893402 |
| Type 1 diabetes mellitus 2 |
Conflicting classifications of pathogenicity |
rs113298164 |
RCV003227602 |
| Type 2 diabetes mellitus |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign |
rs184587533, rs369262181, rs575306493, rs752423767, rs145811475, rs768409840, rs1893340418, rs372553692, rs2548782220, rs137926228, rs113298164, rs371573112, rs140272400, rs749932377, rs142036980 |
RCV003228002 RCV003401945 RCV003336506 RCV006261789 RCV003228622 RCV003228642 RCV003228653 RCV003228659 RCV003228688 RCV003336603 RCV002247345 RCV005396955 RCV002504083 RCV005392375 RCV003227876 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs58453124 |
RCV005893404 |
|
| Disease Name |
Relationship Type |
References |
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency |
Inhibit |
17173698 |
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency |
Associate |
22955918, 9392428, 9463337 |
| Abortion Spontaneous |
Associate |
29270100 |
| Altitude Sickness |
Associate |
29625625 |
| Alzheimer Disease |
Associate |
23181436 |
| Arthropathy progressive pseudorheumatoid of childhood |
Associate |
10681408 |
| Atherosclerosis |
Associate |
10681408, 12354428, 15656877, 15961789, 16164573, 23181436, 23991054 |
| Brain Ischemia |
Associate |
12354428 |
| Carcinogenesis |
Associate |
22294764 |
| Carcinoma Hepatocellular |
Stimulate |
2542313 |
| Carcinoma Hepatocellular |
Associate |
30600300, 36274132 |
| Carcinoma Non Small Cell Lung |
Associate |
23343765 |
| Cardiomyopathy Restrictive |
Associate |
12621166 |
| Cardiovascular Diseases |
Associate |
19691831, 31077211 |
| Carotid Stenosis |
Associate |
12354428 |
| Colorectal Neoplasms |
Associate |
22294764 |
| Conversion Disorder |
Associate |
35388043 |
| Corneal Neovascularization |
Associate |
22247473 |
| Coronary Artery Disease |
Associate |
10681408, 12364543, 12417924, 12883629, 12964943, 17175070, 21548985, 23874450, 24504152, 29310573, 33004870 |
| Coronary Disease |
Associate |
10946018, 20855565, 21960661, 30371334 |
| Death |
Associate |
29270100 |
| Diabetes Mellitus Type 2 |
Associate |
12547874, 15656877, 22073289 |
| Diabetic Nephropathies |
Associate |
23879411 |
| Dyslipidemias |
Associate |
16343038, 25117371, 28315561, 39518997 |
| Encephalitis Japanese |
Associate |
14657196 |
| Glucose Intolerance |
Associate |
15656877 |
| Glycogen Storage Disease Type II |
Associate |
32979492 |
| Guillain Barre Syndrome |
Associate |
35388043 |
| Hearing Loss |
Associate |
34230634, 34758154 |
| Hearing Loss Sensorineural |
Associate |
27583405 |
| Heart Diseases |
Associate |
16164573 |
| Hemochromatosis |
Associate |
29270100 |
| Hemorrhagic Fever American |
Associate |
14657196 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate |
22955918 |
| HIV Infections |
Associate |
12837664 |
| Hypercholesterolemia |
Associate |
19695855 |
| Hyperlipidemia Familial Combined |
Associate |
10681408 |
| Hyperlipidemias |
Associate |
23991054 |
| Hyperlipoproteinemia Type I |
Associate |
8301230 |
| Hyperlipoproteinemia Type II |
Associate |
24504152, 36648309 |
| Hypertension |
Associate |
25117371, 25587205 |
| Hypertension Pregnancy Induced |
Associate |
25117371 |
| Hypothyroidism |
Inhibit |
8354961 |
| Hypoxia |
Associate |
29625625 |
| Inflammation |
Associate |
11988625, 12354428, 37461045 |
| Insulin Resistance |
Associate |
10428983 |
| Long QT Syndrome |
Associate |
29270100 |
| Macular Degeneration |
Associate |
20385826, 20888482, 21139980, 21447678, 21906714, 22694956, 23348725, 24608419, 26854823, 27099955, 28456421, 32553749, 34061866, 35027571, 36055244 |
| Macular Degeneration |
Inhibit |
24223199 |
| Metabolic Syndrome |
Associate |
19695855, 34503513, 34801968 |
| Metabolism Inborn Errors |
Associate |
8808756 |
| Myocardial Infarction |
Associate |
19695855 |
| Myocardial Ischemia |
Associate |
12798568 |
| Neoplasms Adipose Tissue |
Associate |
31077211 |
| Neurodegenerative Diseases |
Associate |
23181436 |
| Obesity |
Associate |
14657196, 15941898, 23039238, 23109900, 25926410 |
| Overweight |
Associate |
16316842, 23039238, 23109900, 25926410 |
| Pancreatitis |
Associate |
8301230 |
| Peripheral Arterial Disease |
Associate |
16164573 |
| Polypoidal Choroidal Vasculopathy |
Associate |
26624898, 31877157 |
| Pre Eclampsia |
Associate |
16316842, 25117371 |
| Pregnancy Complications |
Associate |
25117371 |
| Pregnancy in Diabetics |
Associate |
25117371 |
| Pressure Ulcer |
Associate |
22606049 |
| Proteinuria |
Associate |
31286991 |
| Proteinuria |
Stimulate |
32280690 |
| Reticular dysgenesis |
Associate |
32163116 |
| Retinal Drusen |
Inhibit |
21447678 |
| Retinal Drusen |
Associate |
22247473 |
| Stroke |
Associate |
18622260 |
| Vascular Diseases |
Associate |
14531818 |
| Weight Loss |
Associate |
25926410 |
|