| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal recessive retinitis pigmentosa |
Pathogenic; Likely pathogenic |
rs890258715, rs786205533, rs786205534, rs786205535, rs119489105, rs371956016, rs886039422, rs387907314, rs776644374, rs1676689811, rs1677065097, rs911057284 |
RCV003108009 RCV001257798 RCV001257900 RCV001257796 RCV001257901 RCV001257903 RCV001257795 RCV001257797 RCV001257898 RCV001257899 RCV001257902 RCV001257904 |
| Clear cell carcinoma of kidney |
Pathogenic |
rs371956016 |
RCV005887321 |
| MERTK-related disorder |
Likely pathogenic; Pathogenic |
rs772421550, rs1573613491 |
RCV004756037 RCV003413772 |
| Ovarian serous cystadenocarcinoma |
Likely pathogenic; Pathogenic |
rs774577413 |
RCV005912254 |
| Retinal disorder |
Pathogenic |
rs1676904823 |
RCV006272091 |
| Retinal dystrophy |
Pathogenic; Likely pathogenic |
rs1187387547, rs527236083, rs890258715, rs730880273, rs119489105, rs371956016, rs878853355, rs878853354, rs878853353, rs746671363, rs541717028, rs387907314, rs1309140887, rs772421550, rs746291728, rs1684627892, rs1684979540, rs1252719064, rs774755041, rs1676904823, rs775776288, rs746238212, rs1677289241 View all (8 more) |
RCV004815527 RCV003888565 RCV004794583 RCV001073657 RCV004814840 RCV001073654 RCV000225588 RCV000225669 RCV000225591 RCV004818423 RCV001074082 RCV004814930 RCV004817826 RCV001074011 RCV004818093 RCV001073477 RCV001073379 RCV001073453 RCV001075276 RCV001075473 RCV001073414 RCV001073813 RCV001073814 |
| Retinitis pigmentosa |
Pathogenic; Likely pathogenic |
rs527236083, rs119489105, rs371956016, rs878853354, rs878853353, rs142721656, rs541717028, rs746238212, rs772421550, rs1573592124, rs1573607809, rs774577413, rs1676864299, rs780007963 |
RCV000132664 RCV001723542 RCV003324483 RCV000505072 RCV001723812 RCV003324701 RCV000504691 RCV000504845 RCV000787624 RCV000787625 RCV000787626 RCV001724205 RCV001199709 RCV001249884 |
| Retinitis pigmentosa 38 |
Pathogenic; Likely pathogenic |
rs868566811, rs2104423659, rs2104411620, rs2104423657, rs2104652801, rs527236083, rs527236134, rs1676862579, rs786205533, rs786205534, rs786205535, rs756229364, rs1400057476, rs730880273, rs119489105, rs371956016, rs863224894, rs779211043, rs886039422, rs2466781317, rs1573648098, rs1553449458, rs541717028, rs1573554264, rs387907314, rs1553454799, rs1309140887, rs1573592033, rs772421550, rs1573613491, rs774577413, rs778383770, rs746291728, rs1573627154, rs1573638426, rs778005207, rs1487540503, rs775776288, rs776644374, rs1676689811, rs1676926630 View all (26 more) |
RCV001376204 RCV001376471 RCV005866983 RCV001801331 RCV001808072 RCV004796036 RCV000132665 RCV002255114 RCV003987405 RCV003987406 RCV003987407 RCV004796769 RCV005021663 RCV000005732 RCV000005733 RCV000005734 RCV000197519 RCV005254670 RCV004760469 RCV004798982 RCV003990571 RCV000502117 RCV002289688 RCV000030843 RCV000030845 RCV000622651 RCV000625642 RCV000786937 RCV002501026 RCV000986795 RCV000986796 RCV000986797 RCV000986798 RCV002249605 RCV001002387 RCV001001159 RCV001001044 RCV003991038 RCV001376396 RCV001376500 RCV003988865 RCV001267880 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs35898499, rs7588635 |
RCV005886507 RCV005895905 |
| Adrenocortical carcinoma, hereditary |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886510 |
| Cervical cancer |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs35898499, rs3761702, rs7588635 |
RCV005886511 RCV005894905 RCV005895908 |
| Cholangiocarcinoma |
Benign; Likely benign |
rs7588635 |
RCV005895914 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886519 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs7588635 |
RCV005894914 |
| Cone-rod dystrophy |
Uncertain significance |
rs1326116803 |
RCV005419306 |
| Familial pancreatic carcinoma |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886513 |
| Gastric cancer |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs3761702 |
RCV005894908 RCV005913814 |
| Hepatocellular carcinoma |
Benign; Likely benign |
rs3761702, rs3811640, rs7588635 |
RCV005894904 RCV005895917 RCV005895906 |
| Lung cancer |
Benign; Likely benign |
rs3761702, rs7588635 |
RCV005894912 RCV005895915 |
| Lymphoma |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886515 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs3811640 |
RCV005895918 |
| Malignant tumor of esophagus |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886508 |
| Melanoma |
Benign; Likely benign |
rs3761702, rs7588635 |
RCV005894911 RCV005895913 |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs35898499, rs7588635 |
RCV005886509 RCV005895907 |
| Optic atrophy |
Uncertain significance; Conflicting classifications of pathogenicity |
rs139822416, rs144751432 |
RCV004817796 RCV004813657 |
| Ovarian cancer |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886512 |
| Retinitis Pigmentosa, Recessive |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign |
rs780734852, rs529766238, rs147500027 |
RCV000340248 RCV000370801 RCV000279642 |
| Sarcoma |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs35898499, rs3761702, rs7588635 |
RCV005886514 RCV005894907 RCV005895910 |
| Thymoma |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886517 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs35898499, rs3761702, rs7588635 |
RCV005886518 RCV005894910 RCV005895912 RCV005913815 |
| Uterine carcinosarcoma |
Conflicting classifications of pathogenicity |
rs35898499 |
RCV005886516 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs3761702, rs7588635 |
RCV005894913 RCV005895916 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
29530050 |
| Acute On Chronic Liver Failure |
Associate |
25479139 |
| Adenoma |
Stimulate |
35260162 |
| Adenoma Pleomorphic |
Associate |
33727696 |
| Alzheimer Disease |
Associate |
29530050 |
| Arthritis Rheumatoid |
Inhibit |
2969703 |
| Arthritis Rheumatoid |
Associate |
38283352 |
| Atherosclerosis |
Associate |
22942426 |
| Atrophy |
Associate |
20300561 |
| Autoimmune Diseases |
Stimulate |
28727830 |
| Blood Coagulation Disorders |
Associate |
37673933 |
| Blood Platelet Disorders |
Associate |
33114206 |
| Brain Neoplasms |
Associate |
8692923 |
| Breast Neoplasms |
Associate |
25074939 |
| Carcinogenesis |
Stimulate |
20423999 |
| Carcinogenesis |
Associate |
35728303 |
| Carcinoma Hepatocellular |
Associate |
32955083, 35728303, 36003399 |
| Carcinoma Non Small Cell Lung |
Associate |
25372020, 25826078, 35708914 |
| Carcinoma Renal Cell |
Associate |
36216827 |
| Cardiomyopathy Dilated |
Associate |
39762897 |
| Cholestasis Extrahepatic |
Associate |
25479139 |
| Cluster Headache |
Associate |
34180076, 36404298 |
| Colitis |
Associate |
28727830 |
| Colorectal Neoplasms |
Associate |
29101300 |
| Communicable Diseases |
Associate |
31075180 |
| Cone Rod Dystrophies |
Associate |
20300561, 29555955 |
| Coronary Artery Disease |
Associate |
33761885 |
| COVID 19 |
Associate |
33254534, 35145507, 36924127 |
| Demyelinating Autoimmune Diseases CNS |
Associate |
38150649 |
| Demyelinating Diseases |
Associate |
21347448, 26990204 |
| Diabetes Mellitus |
Inhibit |
28668213 |
| Diabetes Mellitus Type 1 |
Associate |
30978214 |
| Diabetic Nephropathies |
Associate |
28668213 |
| Disease |
Associate |
24807792 |
| Endometrial Neoplasms |
Associate |
36965901 |
| Eye Diseases |
Associate |
32976546 |
| Fibrosis |
Associate |
22841784, 33512463, 36003399 |
| Giant Cell Tumor of Tendon Sheath |
Associate |
33727696 |
| Glioblastoma |
Associate |
27783662 |
| Glioma |
Associate |
24410805 |
| Graft vs Host Disease |
Associate |
31300420 |
| Head and Neck Neoplasms |
Associate |
27081701 |
| Hearing Loss |
Associate |
33353011 |
| Hepatitis C |
Associate |
22841784 |
| Hepatitis C Chronic |
Associate |
36003399 |
| Idiopathic Pulmonary Fibrosis |
Associate |
31221805 |
| Immunoglobulin G4 Related Disease |
Associate |
33512463 |
| Immunologic Deficiency Syndromes |
Inhibit |
28246391 |
| Inflammation |
Associate |
22907951, 22942426, 25479139, 28727830, 29530050, 31075180, 33512463, 36003399, 37671615, 38283352 |
| Inflammation |
Inhibit |
29359540 |
| Leber Congenital Amaurosis |
Associate |
20300561, 21602930, 30416334 |
| Leukemia |
Associate |
19922767, 22363695, 36960055 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
6956889 |
| Leukemia Myeloid Acute |
Associate |
23474756, 36960055 |
| Leukoplakia Hairy |
Stimulate |
15479819 |
| Lewy Body Disease |
Associate |
37671615 |
| Liver Cirrhosis |
Associate |
22841784, 36003399 |
| Liver Diseases |
Associate |
30978214, 36003399 |
| Liver Diseases Alcoholic |
Associate |
30978214 |
| Lung Neoplasms |
Associate |
33114206 |
| Lupus Erythematosus Systemic |
Associate |
22942426, 24325951, 24741600, 25878564 |
| Lupus Erythematosus Systemic |
Stimulate |
24650765 |
| Macrophage Activation Syndrome |
Associate |
30713533 |
| Melanoma |
Associate |
16946712, 23617806, 35007555 |
| Meningioma |
Associate |
38102708, 39179860 |
| MINOCA |
Associate |
33761885 |
| Multiple Myeloma |
Associate |
28154173, 35967396 |
| Multiple Sclerosis |
Stimulate |
19541935 |
| Multiple Sclerosis |
Associate |
21347448, 38150649 |
| Multiple Sclerosis |
Inhibit |
26990204 |
| Neoplasm Metastasis |
Associate |
34830178 |
| Neoplasms |
Associate |
20423999, 22363695, 22942426, 24326683, 25074939, 25826078, 27081701, 27231203, 27783662, 28034848, 28727830, 33101282, 33114206, 35007555, 35708914, 36965901, 37387515, 37545504, 37628967, 37733241, 39174890, 39179860 View all (7 more) |
| Neoplasms |
Stimulate |
35728303 |
| Neoplastic Syndromes Hereditary |
Associate |
30416334 |
| Neuhauser syndrome |
Associate |
8855970 |
| Neurilemmoma |
Associate |
39179860 |
| Night Blindness |
Associate |
33353011 |
| Non alcoholic Fatty Liver Disease |
Associate |
30978214 |
| Osteosarcoma |
Associate |
39174890 |
| Pancreatic Neoplasms |
Associate |
23872419, 37628967 |
| Parkinson Disease |
Associate |
37671615 |
| Patterned dystrophy of retinal pigment epithelium |
Associate |
33672445 |
| Peri Implantitis |
Associate |
34858391 |
| Personality Disorders |
Associate |
35007555 |
| Pheochromocytoma |
Associate |
26700204 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
19922767 |
| Rectal Diseases |
Associate |
37387515 |
| Retinal Degeneration |
Associate |
11727200, 33252167 |
| Retinal Diseases |
Associate |
16714263, 38184646 |
| Retinal Dystrophies |
Associate |
11727200, 16714263, 20300561, 21677792, 24625443, 30416334, 33173045, 33353011, 34996991, 37165311 |
| Retinitis Pigmentosa |
Associate |
16710167, 20300561, 20538656, 21677792, 22128245, 26147992, 27122965, 28246391, 28462455, 30416333, 30612079, 30790467, 32160519, 32976546, 33242397, 33353011, 33609509, 33672445 View all (3 more) |
| Segmentation syndrome 1 |
Associate |
33242397 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
27081701 |
| Stroke |
Associate |
37673933 |
| Synucleinopathies |
Associate |
37671615 |
| Thrombotic Microangiopathies |
Associate |
31300420 |
| Thyroid cancer medullary |
Associate |
26700204 |
| Thyroid Cancer Papillary |
Associate |
37733241 |
| Triple Negative Breast Neoplasms |
Associate |
27231203 |
| Turcot syndrome |
Associate |
8855970 |
| Uveal melanoma |
Associate |
37506796 |
| Uveitis Anterior |
Associate |
32492107 |
| Vascular Diseases |
Associate |
31300420 |
| Virus Diseases |
Associate |
37673933 |
| Vision Disorders |
Associate |
27122965, 30790467, 32160519 |
|