| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Colon adenocarcinoma |
Likely pathogenic; Pathogenic |
rs147452041 |
RCV005931966 |
| Colorectal cancer |
Likely pathogenic |
rs371960046 |
RCV005922462 |
| Congenital hypothyroidism |
Likely pathogenic; Pathogenic |
rs2141143881, rs530719719, rs567500345, rs531536885 |
RCV001449802 RCV000991174 RCV001270329 RCV006437018 |
| DUOX2-related disorder |
Likely pathogenic; Pathogenic |
rs200717240, rs368512412, rs530719719, rs762588205, rs119472029, rs191759494, rs567500345, rs180671269, rs977021576, rs935436918, rs776336201, rs772809435 |
RCV004751965 RCV003966228 RCV003398870 RCV004750806 RCV003398443 RCV003417764 RCV003909901 RCV004751435 RCV003402162 RCV003394351 RCV003921379 RCV003896955 |
| Familial thyroid dyshormonogenesis |
Likely pathogenic; Pathogenic |
rs200717240, rs530719719, rs119472027, rs119472028, rs119472029, rs191759494, rs567500345, rs180671269, rs531536885 |
RCV005361580 RCV000169659 RCV005357070 RCV005364869 RCV005357071 RCV000614180 RCV005355583 RCV005355601 RCV005359926 |
| Gastric cancer |
Pathogenic |
rs180671269 |
RCV005895764 |
| Nongoitrous Euthyroid Hyperthyrotropinemia |
Likely pathogenic; Pathogenic |
rs530719719, rs191759494, rs748793969 |
RCV000755102 RCV000755103 RCV000755099 |
| See cases |
Likely pathogenic; Pathogenic |
rs1009807148 |
RCV002252934 |
| Thyroid dyshormonogenesis 6 |
Likely pathogenic; Pathogenic |
rs769318570, rs770083296, rs200717240, rs201109959, rs368512412, rs2141145828, rs772348846, rs772809435, rs371960046, rs753527559, rs779861023, rs774556391, rs765438725, rs1566971699, rs368967911, rs778921174, rs578014563, rs758001307, rs760186738, rs181461079, rs1894386318, rs2141144285, rs2141153740, rs1190275359, rs147452041, rs530719719, rs1168089009, rs119472026, rs119472027, rs119472028, rs119472029, rs773312598, rs749552242, rs1047718058, rs2504775143, rs199589510, rs191759494, rs567500345, rs180671269, rs375229316, rs2504785818, rs935436918, rs1332668133, rs756995727, rs769776374, rs769789467, rs769258094, rs761385278, rs1480917996, rs2504738840, rs1456557225, rs1466329686, rs765380383, rs764013641, rs1328924162, rs748194265, rs748793969, rs754179275, rs368975704, rs200592893, rs1566977567, rs1566978577, rs752635135, rs376983373, rs752176935, rs778178479, rs531536885, rs549559724 View all (53 more) |
RCV001645013 RCV002497880 RCV003485711 RCV001780331 RCV005005973 RCV001783164 RCV001783165 RCV001781006 RCV001781007 RCV001781009 RCV005253261 RCV001781011 RCV001823644 RCV005006309 RCV005002665 RCV005002717 RCV005006317 RCV003323962 RCV005638604 RCV002479588 RCV002250981 RCV002251194 RCV005008510 RCV002466907 RCV005002841 RCV001265562 RCV005002955 RCV000004277 RCV000004278 RCV000004279 RCV000004280 RCV005008635 RCV003447633 RCV005010886 RCV005002990 RCV000490414 RCV000490324 RCV000604013 RCV000779165 RCV003331938 RCV003388745 RCV005003064 RCV003486077 RCV005003656 RCV005013037 RCV005003671 RCV004796829 RCV005013038 RCV005013039 RCV005013092 RCV005003685 RCV005013172 RCV005013228 RCV005013252 RCV005013260 RCV000778432 RCV000778437 RCV000779164 RCV000778433 RCV000778438 RCV000779166 RCV000781340 RCV000791200 RCV002495090 RCV001170067 RCV001170072 RCV003448376 RCV001265561 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Conflicting classifications of pathogenicity |
rs112428007 |
RCV005907854 |
| Cervical cancer |
Benign; Conflicting classifications of pathogenicity |
rs77512689, rs112428007 |
RCV005923516 RCV005907855 |
| Clear cell carcinoma of kidney |
Conflicting classifications of pathogenicity |
rs112428007 |
RCV005907856 |
| Familial cancer of breast |
Benign |
rs269869 |
RCV005892900 |
| Idiopathic basal ganglia calcification 1 |
Uncertain significance |
rs997825421 |
RCV005420413 |
| Lung cancer |
Uncertain significance; Conflicting classifications of pathogenicity |
rs375943962, rs112428007 |
RCV005895434 RCV005907863 |
| Malignant tumor of esophagus |
Benign; Conflicting classifications of pathogenicity |
rs77512689, rs112428007, rs368847158 |
RCV005923515 RCV005907852 RCV005913752 |
| Meckel syndrome, type 11 |
Benign; Likely benign |
rs138353181 |
RCV001258289 |
| Melanoma |
Conflicting classifications of pathogenicity |
rs112428007 |
RCV005907862 |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity |
rs112428007 |
RCV005907853 |
| Ovarian serous cystadenocarcinoma |
Conflicting classifications of pathogenicity |
rs112428007 |
RCV005907860 |
| Sarcoma |
Uncertain significance; Benign; Conflicting classifications of pathogenicity |
rs762337913, rs77512689, rs112428007 |
RCV005911423 RCV005923517 RCV005907858 |
| Thymoma |
Conflicting classifications of pathogenicity |
rs181461079 |
RCV005897275 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance; Conflicting classifications of pathogenicity |
rs143471358, rs112428007 |
RCV005924331 RCV005907861 |
| Uterine corpus endometrial carcinoma |
Likely benign; Conflicting classifications of pathogenicity |
rs112353868, rs112428007 |
RCV005893389 RCV005907864 |
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate |
33628596 |
| Adenomatous Polyposis Coli |
Associate |
33628596 |
| Alcoholism |
Associate |
36577732 |
| Anemia Sickle Cell |
Associate |
21114906 |
| Angelman Syndrome |
Associate |
36028527 |
| Asthma |
Associate |
24518246 |
| Atherosclerosis |
Associate |
33851807 |
| Autism Spectrum Disorder |
Associate |
31595719 |
| Carcinogenesis |
Associate |
21915726 |
| Carcinoma Hepatocellular |
Associate |
21915726, 27282266 |
| Carcinoma in Situ |
Associate |
32425884 |
| Carcinoma Non Small Cell Lung |
Associate |
30273693 |
| Carcinoma Pancreatic Ductal |
Associate |
37330147 |
| Cardiomyopathy Dilated |
Associate |
29320567 |
| Cognition Disorders |
Associate |
32815446 |
| Colitis Collagenous |
Associate |
33930606 |
| Colitis Ulcerative |
Stimulate |
25003194 |
| Colitis Ulcerative |
Associate |
25599773, 32190668, 37322958, 38070204, 38269750 |
| Colorectal Neoplasms |
Associate |
27609023, 29715584, 31992345, 33483567 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate |
28222800 |
| Congenital Hypothyroidism |
Associate |
12110737, 19339556, 21367925, 23426615, 26709262, 26758695, 28541007, 28633507, 29650690, 29977049, 30022773, 30375286, 31044655, 32425884, 34200080, 34234053, 34276565, 36012511, 36028527, 36071330, 36207832, 36207837, 36913313, 40362701, 40516894 View all (10 more) |
| Constriction Pathologic |
Associate |
38302662 |
| Coronary Artery Disease |
Associate |
19022160 |
| Crohn Disease |
Associate |
20155851, 25003194, 27373512 |
| Cystic Fibrosis |
Associate |
21289024 |
| Diabetes Mellitus |
Associate |
15086456, 22421922 |
| Diabetes Mellitus Type 2 |
Associate |
23701472, 33851807 |
| Diabetes Mellitus Type 2 |
Inhibit |
39948776 |
| Dupuytren Contracture |
Associate |
29880057 |
| Dyskinesia Drug Induced |
Associate |
40516894 |
| Essential Hypertension |
Associate |
23701472 |
| Familial medullary thyroid carcinoma |
Associate |
33488516 |
| Gastritis |
Associate |
34471638 |
| Gastrointestinal Neoplasms |
Associate |
21321110, 31548328 |
| Genetic Diseases Inborn |
Associate |
28541007, 30022773 |
| Goiter |
Associate |
18042646, 28222800, 30375286 |
| Granulomatous Disease Chronic |
Associate |
11166463, 19541821, 21721378, 23264412, 25537876, 25666294, 28287132, 28356734, 35500221, 36705996, 36875143, 7919388, 7949143, 8611697, 8879195 |
| Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I |
Associate |
7919388 |
| Heart Failure |
Associate |
18387435 |
| Helicobacter Infections |
Inhibit |
27048452 |
| Hypertension |
Associate |
22421922 |
| Hypothyroidism |
Associate |
21704604, 31044655, 31541602, 32319661, 34341225, 36207837 |
| Hypothyroidism Congenital Nongoitrous 1 |
Associate |
32319661 |
| Hypothyroidism Congenital Nongoitrous 2 |
Associate |
27821020 |
| Hypoxia |
Associate |
27624778 |
| Infections |
Associate |
20395558, 27048452 |
| Inflammation |
Associate |
21321110, 31548328, 32190668, 38070204 |
| Inflammatory Bowel Diseases |
Associate |
29977049 |
| Intestinal Polyposis |
Associate |
33628596 |
| Invasive Pulmonary Aspergillosis |
Associate |
19541821 |
| Leukemia |
Associate |
20566897 |
| Liver Diseases |
Associate |
27282266 |
| Lung Diseases |
Associate |
19339556 |
| Lung Neoplasms |
Associate |
19339556 |
| Lymphoma B Cell |
Associate |
22354003 |
| Metabolic Syndrome |
Associate |
22421922 |
| Mucositis |
Associate |
25003194 |
| Multiple Myeloma |
Associate |
36223594 |
| Multiple Sclerosis |
Associate |
22366799 |
| Neoplasm Metastasis |
Associate |
34966441 |
| Neoplasms |
Associate |
21915726 |
| Neoplastic Syndromes Hereditary |
Associate |
15629370, 28287132, 33488516 |
| Obesity |
Associate |
22421922 |
| Overweight |
Associate |
22421922 |
| Pancreatic Neoplasms |
Associate |
21321110, 31548328, 33748270, 37330147 |
| Pendred syndrome |
Associate |
28222800 |
| Phenylketonurias |
Associate |
36847978, 38105685 |
| Psychomotor Disorders |
Associate |
30375286 |
| Pulmonary Arterial Hypertension |
Associate |
23701472 |
| Rectal Neoplasms |
Associate |
36361712 |
| Severe Acute Respiratory Syndrome |
Associate |
24518246 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
29802697 |
| Stomach Neoplasms |
Associate |
26207686, 27048452 |
| Thyroid cancer medullary |
Associate |
33488516 |
| Thyroid Carcinoma Anaplastic |
Associate |
27796151 |
| Thyroid Diseases |
Associate |
28222800 |
| Thyroid Dysgenesis |
Associate |
32425884 |
| Thyroid Dyshormonogenesis 1 |
Associate |
27525530, 27821020, 30022773, 30240412, 31541602, 32319661, 33692749, 34341225, 36012511 |
| Thyroid Dyshormonogenesis 1 |
Stimulate |
34539567 |
| Thyroid Dyshormonogenesis 2A |
Associate |
12110737 |
| Thyroid Hormone Resistance Syndrome |
Associate |
12110737, 34341225 |
| Thyroid Neoplasms |
Associate |
34966441 |
| Thyroiditis |
Associate |
36207832 |
| Uniparental Disomy |
Associate |
36028527 |
| Uterine Cervical Neoplasms |
Stimulate |
31706280 |
| Vascular Diseases |
Associate |
18387435 |
| Ventricular Remodeling |
Associate |
29320567 |
|