| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Factor VII Marburg I Variant Thrombophilia |
Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign |
rs7080536, rs11575695, rs768924245, rs111397043, rs142936446, rs11575755, rs145550399, rs377526977, rs372640275, rs2245058, rs535456555, rs886046744, rs751515984, rs886046747, rs886046749, rs886046750, rs3740530, rs374774514, rs764289580, rs140350069, rs138864377, rs2245056, rs745979452, rs113091571, rs552422428, rs886046752, rs2240879, rs185066511, rs886046739, rs886046740, rs886046741, rs201266591, rs200597605, rs886046743, rs563491571, rs557625429, rs886046746, rs569517338, rs3740529, rs886046751, rs77529465, rs200192110, rs61867369, rs139478887, rs886046742, rs11575688, rs143492790, rs765311952, rs186172374, rs886046745, rs774153837, rs886046748, rs886046753, rs117698899, rs187029293, rs11575749, rs7086714, rs151205492, rs567136227, rs113225892, rs11575750, rs142164108, rs78201625, rs1169609462, rs956367134, rs754504728, rs1845461086, rs11575759, rs909851850, rs146758495, rs369959971, rs141394312, rs1845542116, rs1845542843, rs1237088878, rs1845543593, rs1845544260, rs570843767, rs773029226, rs1564680673, rs141433300, rs138619726, rs775968273, rs761211480, rs771345114, rs1048170723, rs1023865351, rs138944153, rs906240762, rs529487369, rs551018573, rs556202931, rs374057464, rs1845425763, rs7086974, rs184372424, rs772928232, rs771393045 View all (83 more) |
RCV000286268 RCV000399909 RCV000340903 RCV000332439 RCV000278601 RCV000374086 RCV000284254 RCV000308139 RCV000274089 RCV000315252 RCV000261729 RCV000376114 RCV000349161 RCV000300970 RCV000267152 RCV000325192 RCV000330830 RCV000276918 RCV000339332 RCV000401497 RCV000399498 RCV000309209 RCV000368744 RCV000357334 RCV000288482 RCV000289965 RCV000305895 RCV000360136 RCV000306617 RCV000271133 RCV000373142 RCV000338306 RCV000369911 RCV000261272 RCV000322635 RCV000394120 RCV000392252 RCV000265934 RCV000361792 RCV000384471 RCV000295780 RCV000270195 RCV000366003 RCV000385322 RCV000344254 RCV000316525 RCV000321532 RCV000382956 RCV000348220 RCV000294193 RCV000354734 RCV000320992 RCV000330913 RCV000385416 RCV001107502 RCV001107503 RCV001103880 RCV001106838 RCV001106839 RCV001107501 RCV001103876 RCV001103878 RCV001103879 RCV001104163 RCV001104164 RCV001104165 RCV001104166 RCV001104167 RCV001106937 RCV001106939 RCV001106940 RCV001106941 RCV001107597 RCV001107598 RCV001107599 RCV001107600 RCV001107601 RCV001107602 RCV001103988 RCV001103989 RCV001104281 RCV001104282 RCV001107040 RCV001107041 RCV001107042 RCV001107043 RCV001107044 RCV001107701 RCV001104069 RCV001104070 RCV001104071 RCV001104378 RCV001107125 RCV001103877 RCV001103881 RCV001106938 RCV001103990 RCV001104280 |
| FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM |
Conflicting classifications of pathogenicity |
rs7080536 |
RCV000006338 |
| HABP2-related disorder |
Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign |
rs772097319, rs111397043, rs2245058, rs3740530, rs2245056, rs113091571, rs201266591, rs36039098, rs148362361, rs770805362, rs11575750, rs78201625, rs184372424 |
RCV003393056 RCV003950002 RCV003977860 RCV003977858 RCV003977859 RCV003910093 RCV005355626 RCV003934035 RCV003914476 RCV003971508 RCV003945812 RCV003953475 RCV003906202 |
| Papillary renal cell carcinoma type 1 |
Likely benign |
rs771393045 |
RCV005913686 |
| Thrombophilia due to thrombin defect |
Benign; Likely benign |
rs138864377, rs78201625 |
RCV002504050 RCV002497512 |
| Thyroid cancer, nonmedullary, 5 |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs2133792767, rs7080536, rs138864377, rs202025374, rs78201625 |
RCV002244136 RCV005364871 RCV002504050 RCV004527488 RCV002497512 |
| THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO |
Conflicting classifications of pathogenicity |
rs7080536 |
RCV000190487 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs114206232 |
RCV005930029 |
| Venous thromboembolism, susceptibility to |
Conflicting classifications of pathogenicity |
rs7080536 |
RCV000006340 |
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Associate |
22850287 |
| Breast Neoplasms |
Associate |
28402931, 29665850 |
| Carcinoma Hepatocellular |
Inhibit |
24278187 |
| Carcinoma Hepatocellular |
Associate |
38110372 |
| Cardiovascular Diseases |
Associate |
19446554 |
| Carotid Stenosis |
Associate |
15486068, 21393601 |
| Carotid Stenosis |
Stimulate |
32856552 |
| Cerebral Infarction |
Stimulate |
22409238 |
| Coronary Artery Disease |
Stimulate |
22850287 |
| Coronary Artery Disease |
Associate |
29927903 |
| Death |
Stimulate |
22850287 |
| Diabetes Mellitus |
Stimulate |
25370187 |
| Inflammation |
Associate |
26626052, 29927903, 32856552 |
| Insulinoma |
Associate |
39536727 |
| Ischemic Attack Transient |
Associate |
29385837 |
| Kashin Beck Disease |
Associate |
28651521 |
| Kidney Diseases |
Associate |
39273271 |
| Liver Cirrhosis |
Associate |
19446554, 38110372 |
| Lupus Erythematosus Systemic |
Associate |
26626052 |
| Melioidosis |
Associate |
25370187 |
| Myocardial Infarction |
Stimulate |
22850287 |
| Neoplasms |
Associate |
23100106, 23688398, 26222560, 28582436 |
| Neoplasms |
Inhibit |
27530615 |
| Neoplastic Syndromes Hereditary |
Associate |
26832773 |
| Neuroendocrine Tumors |
Associate |
39536727 |
| Osteoarthritis |
Associate |
28651521, 35538609 |
| Ovarian Neoplasms |
Associate |
36978087 |
| Respiratory Distress Syndrome |
Associate |
17483138 |
| Schizophrenia |
Associate |
22247771 |
| Sepsis |
Associate |
25370187 |
| Stroke |
Associate |
21114618 |
| Thyroid Cancer Papillary |
Associate |
26222560, 26745718, 26832773, 28402931 |
| Thyroid Neoplasms |
Associate |
26222560, 27530615 |
| Venous Thromboembolism |
Associate |
15486068, 19552680 |
| Venous Thromboembolism |
Inhibit |
19552680 |
| Venous Thrombosis |
Associate |
22409238 |
|