| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs2672810, rs55771636, rs138440673, rs78669250, rs139052978, rs56381293 |
RCV005888533 RCV005888542 RCV005894969 RCV005898318 RCV005898322 RCV005910044 |
| Adrenocortical carcinoma, hereditary |
Benign |
rs2672810 |
RCV005888535 |
| Antisynthetase syndrome |
Benign; risk factor |
rs35705950 |
RCV004794344 |
| Cervical cancer |
Benign |
rs2672810, rs61734215, rs55771636, rs55657020, rs138440673, rs139052978 |
RCV005888536 RCV005888344 RCV005888543 RCV005888335 RCV005894971 RCV005898325 |
| Clear cell carcinoma of kidney |
Benign |
rs61734215, rs181429615 |
RCV005888345 RCV005932974 |
| Colon adenocarcinoma |
Benign; Conflicting classifications of pathogenicity; Likely benign |
rs2672810, rs61734215, rs55657020, rs368986524, rs138440673, rs139052978, rs200811033, rs377351415 |
RCV005888532 RCV005888341 RCV005888334 RCV005891980 RCV005894968 RCV005898321 RCV005898328 RCV005898764 |
| Colorectal cancer |
Benign; Likely benign |
rs2672810, rs55657020, rs139052978, rs200811033 |
RCV005888538 RCV005888336 RCV005898326 RCV005898330 |
| Familial cancer of breast |
Benign |
rs138440673, rs139052978 |
RCV005894967 RCV005898320 |
| Gastric cancer |
Benign; Likely benign |
rs10832955, rs2672810, rs61734215, rs55657020, rs377351415 |
RCV005915257 RCV005888539 RCV005888346 RCV005888337 RCV005898765 |
| Germ cell tumor of testis |
Benign |
rs2075859 |
RCV005888531 |
| Hepatocellular carcinoma |
Benign |
rs139052978 |
RCV005898323 |
| Interstitial lung disease 2 |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor |
rs80298911, rs756422827, rs200554635, rs756267644, rs770310208, rs370908099, rs202127660, rs76956995, rs541896355, rs767911449, rs201272490, rs185838223, rs35705950, rs200226020, rs55913363, rs113495521 View all (1 more) |
RCV001332134 RCV001332135 RCV001336470 RCV001336471 RCV001336472 RCV002486493 RCV001376074 RCV001376075 RCV004771536 RCV003990523 RCV005398567 RCV001420689 RCV000151031 RCV002476349 RCV002506450 RCV002495408 |
| Lung cancer |
Benign |
rs61734215, rs138440673, rs139052978 |
RCV005888349 RCV005894973 RCV005898327 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs10832955 |
RCV005915256 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs55910218, rs2672810, rs61734215, rs138440673, rs139052978, rs200811033 |
RCV005921497 RCV005888534 RCV005888342 RCV005894970 RCV005898324 RCV005898329 |
| Melanoma |
Benign; Likely benign |
rs2672810, rs200811033 |
RCV005888540 RCV005898332 |
| MUC5B-related disorder |
Benign; Uncertain significance; Likely benign |
rs55669609, rs55856616, rs61734215, rs371074019, rs182394351, rs56159668, rs201605309, rs373364716 |
RCV004758819 RCV004758653 RCV004758654 RCV004758930 RCV004758931 RCV004758935 RCV003941671 RCV004758750 |
| Nonpapillary renal cell carcinoma |
Benign |
rs2943513, rs61734215 |
RCV005924721 RCV005888343 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs10832955, rs61734215, rs55657020, rs181429615, rs78669250, rs200811033 |
RCV005915258 RCV005888347 RCV005888338 RCV005932975 RCV005898319 RCV005898331 |
| Pulmonary fibrosis, idiopathic, susceptibility to |
Benign; risk factor |
rs35705950 |
RCV000023036 |
| Sarcoma |
Benign; Uncertain significance |
rs55910218, rs200329857 |
RCV005921498 RCV005930843 |
| Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B |
Benign; risk factor |
rs35705950 |
RCV002466249 |
| Thymoma |
Benign |
rs55910218, rs55657020, rs138440673 |
RCV005921499 RCV005888339 RCV005894972 |
| Uterine carcinosarcoma |
Benign |
rs10832955, rs61734215 |
RCV005915259 RCV005888348 |
| Uterine corpus endometrial carcinoma |
Benign |
rs2672810, rs61734215, rs55771636, rs55657020, rs138440673 |
RCV005888541 RCV005888350 RCV005888544 RCV005888340 RCV005894974 |
| Uveal melanoma |
Benign |
rs2672810 |
RCV005888537 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
25733373 |
| Adenocarcinoma of Lung |
Associate |
25733373 |
| Agricultural Workers' Diseases |
Associate |
39969351 |
| Alveolitis Extrinsic Allergic |
Associate |
28648751, 32602730, 34996848, 37445925, 38309995 |
| Anthracosis |
Associate |
39969351 |
| Arthritis Rheumatoid |
Associate |
30345907, 30635297, 32142504, 33993221, 34344703, 34411838, 35289841, 36717188 |
| Asthma |
Associate |
28716644, 31430856, 32460303, 36946148, 37146737, 37241840 |
| Bronchiectasis |
Associate |
31765597 |
| Bronchiectasis |
Stimulate |
38016030 |
| Bronchiolitis Obliterans Syndrome |
Associate |
35651878 |
| Bronchitis Chronic |
Associate |
37352370, 39769414 |
| Burnett Schwartz Berberian syndrome |
Associate |
23527003, 36555528 |
| Carcinogenesis |
Associate |
12077147 |
| Carcinoma Acinar Cell |
Associate |
34629449 |
| Carcinoma Non Small Cell Lung |
Associate |
26224019 |
| Chondrosarcoma |
Associate |
29138803 |
| Choroidal Effusions |
Associate |
11282555 |
| Cognition Disorders |
Associate |
28506611 |
| Colitis Ulcerative |
Associate |
31826065 |
| Colorectal Neoplasms |
Associate |
10840001, 22738698, 23807779, 29040430, 29547645, 33714943 |
| COVID 19 |
Associate |
35816430 |
| Craniosynostoses |
Associate |
21502478 |
| Crazy paving pattern |
Associate |
36555528 |
| Cystic Fibrosis |
Associate |
10567212, 11860173, 15194565, 16928707, 21502478, 26993521 |
| Cysts |
Associate |
26595739 |
| Death |
Associate |
23695349, 25733373, 36690926 |
| Diabetes Mellitus Type 2 |
Associate |
28346466, 36733806 |
| Dysequilibrium syndrome |
Associate |
33526882 |
| Ear Diseases |
Associate |
19718741 |
| Emphysema |
Associate |
39769414 |
| Endometrial Neoplasms |
Stimulate |
16188033 |
| Eosinophilic Esophagitis |
Inhibit |
29691386 |
| Fibrosis |
Associate |
25858779, 26836909, 28648751, 31558622, 32602730, 33526882 |
| Gastrointestinal Neoplasms |
Associate |
10840001 |
| HIV Infections |
Associate |
23567117 |
| Hyperplasia |
Associate |
21502478 |
| Hypertension Pulmonary |
Associate |
35651878 |
| Hypoxia Brain |
Stimulate |
37285404 |
| Idiopathic Interstitial Pneumonias |
Associate |
28066036, 29206633, 36946148 |
| Idiopathic Pulmonary Fibrosis |
Associate |
21506741, 23321605, 23527003, 23692170, 23695349, 24434656, 25121989, 25184687, 25192356, 25275363, 25317858, 25858779, 26331942, 26595739, 26823827, 26836909, 28066036, 28272906, 28648751, 28893869, 29066090, 29206633, 29891356, 30345907, 30635297, 30952951, 31034279, 31558622, 31653936, 31996780, 32142504, 32941426, 33076992, 33320836, 33432658, 33446833, 33639995, 33714028, 33794872, 34370624, 34411838, 34515605, 35608953, 35651878, 35816432, 36555528, 36635100, 37523715, 37777755, 37788444, 37978501, 40076835 View all (37 more) |
| Immunologic Deficiency Syndromes |
Associate |
23370770 |
| Infections |
Associate |
10567212 |
| Inflammation |
Associate |
25747723, 35486871 |
| Lung Diseases |
Associate |
25858779, 37788444, 39769414 |
| Lung Diseases Interstitial |
Associate |
21506741, 23692170, 24434656, 25121989, 25192356, 25389906, 26836909, 27314401, 28893869, 30345907, 30635297, 31339356, 31996780, 32142504, 33076992, 33446609, 33526882, 34344703, 34411838, 35289841, 35583934, 35651878, 36155967, 36189284, 36690926, 36717188, 36733806, 36833253, 37523715 View all (14 more) |
| Lung Injury |
Associate |
28506611 |
| Meniere Disease |
Associate |
28106268 |
| Meningeal Carcinomatosis |
Associate |
11278696 |
| Mental Disorders |
Associate |
37788444 |
| Nasopharyngeal Carcinoma |
Associate |
35712071 |
| Neoplasms |
Associate |
11278696, 16188033, 22738698, 23370770, 26224019, 30107644, 30803560, 32108034 |
| Neoplasms |
Inhibit |
29138803 |
| Otitis Media |
Stimulate |
11350794 |
| Otitis Media |
Associate |
14690056, 19718741, 21857919 |
| Otitis Media with Effusion |
Associate |
23929584 |
| Pancreatic Neoplasms |
Associate |
27230679 |
| Personality Disorders |
Stimulate |
30285776 |
| Pneumoconiosis |
Associate |
39969351 |
| Pregnancy Interstitial |
Associate |
35780812, 36690926 |
| Pulmonary Disease Chronic Obstructive |
Associate |
17200179, 34389698, 37352370, 37788444, 39769414 |
| Pulmonary Fibrosis |
Associate |
21506741, 22576636, 23692170, 23695349, 25275363, 26836909, 29440587, 31558622, 33526882, 33993221, 35482673, 35651878, 36690926 |
| Respiration Disorders |
Associate |
29440587 |
| Respiratory Insufficiency |
Associate |
33794872 |
| Respiratory Tract Diseases |
Associate |
33526882, 36427316 |
| Rhinitis Allergic |
Associate |
34334005 |
| Salivary Gland Diseases |
Associate |
36701953 |
| Scleroderma Systemic |
Associate |
36189284 |
| Sjogren's Syndrome |
Associate |
35740863 |
| Status Asthmaticus |
Associate |
10024529, 37146737 |
| Stomach Neoplasms |
Associate |
11278696, 19924550, 24935372 |
| Surfactant Dysfunction |
Associate |
33526882 |
| Syndactyly Type IV |
Associate |
36690926 |
| Teratoma |
Associate |
36289533 |
| Teratoma Ovarian |
Associate |
17479161 |
| Turcot syndrome |
Associate |
23370770 |
| Xerostomia |
Associate |
36701953 |
|