| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormal facial shape |
Pathogenic |
rs730882215 |
RCV000162124 |
| Abnormality of the nervous system |
Likely pathogenic; Pathogenic |
rs1295198168, rs373306276, rs199628364 |
RCV001814482 RCV001814359 RCV001814252 |
| Autosomal recessive spinocerebellar ataxia 12 |
Likely pathogenic; Pathogenic |
rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777127, rs587777128, rs587777248, rs867163041, rs2151934194, rs2151674791, rs770155582, rs1377640182, rs730880291, rs730882215, rs1232899835, rs758588684, rs2032287989, rs2507125143, rs2507632091, rs2507406750, rs751181600, rs878855021, rs756762196, rs368928190, rs2507407106, rs2507630439, rs2507126639, rs2507402150, rs1057517846, rs1057518795, rs1060502727, rs990150249, rs1064795117, rs201008667, rs1039151413, rs1567542020, rs1300924648, rs1597216056, rs1597207802, rs199628364, rs1394607357, rs2051756247 View all (27 more) |
RCV001378782 RCV001378810 RCV001380098 RCV001384684 RCV000087048 RCV000087049 RCV000824131 RCV001958834 RCV001993945 RCV002007496 RCV001895441 RCV002222278 RCV001850176 RCV001220865 RCV003064358 RCV002570027 RCV002666550 RCV002780125 RCV002853268 RCV003021516 RCV003042824 RCV000490293 RCV000234306 RCV000229073 RCV001385286 RCV003792092 RCV003805646 RCV003797616 RCV003802342 RCV001850983 RCV001861445 RCV000458905 RCV001221428 RCV001381454 RCV000798699 RCV000703936 RCV000703935 RCV000688699 RCV000850618 RCV003117661 RCV000991459 RCV001389252 RCV001211320 RCV001232173 |
| Brain atrophy |
Pathogenic |
rs730882215 |
RCV000162124 |
| Developmental and epileptic encephalopathy, 1 |
Likely pathogenic; Pathogenic |
rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777248, rs867163041, rs2151934194, rs2151674791, rs770155582, rs730880291, rs730882215, rs1232899835, rs758588684, rs2032287989, rs2507125143, rs2507632091, rs2507406750, rs878855021, rs756762196, rs368928190, rs2507407106, rs2507630439, rs2507126639, rs2507402150, rs1057517846, rs1057518795, rs1060502727, rs990150249, rs1064795117, rs201008667, rs1039151413, rs587777127, rs1567542020, rs1300924648, rs1597207871, rs1597216056, rs199628364, rs1394607357, rs2051756247 View all (24 more) |
RCV001378782 RCV001378810 RCV001380098 RCV001384684 RCV000824131 RCV001958834 RCV001993945 RCV002007496 RCV001895441 RCV001850176 RCV001220865 RCV003064358 RCV002570027 RCV002666550 RCV002780125 RCV002853268 RCV003021516 RCV003042824 RCV000234306 RCV000229073 RCV001385286 RCV003792092 RCV003805646 RCV003797616 RCV003802342 RCV001850983 RCV001861445 RCV000458905 RCV001221428 RCV001381454 RCV000798699 RCV000703936 RCV000703935 RCV000688699 RCV000989638 RCV000989639 RCV000989641 RCV001389252 RCV001211320 RCV001232173 |
| Developmental and epileptic encephalopathy, 28 |
Likely pathogenic; Pathogenic |
rs752354290, rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777127, rs587777248, rs375757102, rs2051753978, rs1060502727, rs765339835, rs1377640182, rs730880290, rs730880291, rs730880292, rs730882215, rs2507406750, rs756762196, rs765544833, rs368928190, rs759766243, rs1057518795, rs1064795117, rs201008667, rs1039151413, rs1555532979, rs1300924648, rs1597216056, rs1597207802, rs199628364, rs775696083 View all (16 more) |
RCV001335818 RCV003223420 RCV005256530 RCV005256531 RCV005256532 RCV005256520 RCV005256533 RCV000106406 RCV001800162 RCV001814616 RCV001824210 RCV001824212 RCV002222278 RCV000157086 RCV000157087 RCV000157088 RCV000408849 RCV003992698 RCV000763386 RCV003225626 RCV005256522 RCV001198241 RCV001198240 RCV001796062 RCV005256523 RCV002527597 RCV000850619 RCV005256524 RCV001253496 RCV000585670 RCV000850618 RCV003325982 RCV000991459 RCV001004706 RCV001253748 |
| Developmental delay |
Likely pathogenic |
rs2507125596 |
RCV003154292 |
| Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
Pathogenic; Likely pathogenic |
rs1232899835, rs199628364 |
RCV006262597 RCV002307653 |
| Epileptic encephalopathy |
Likely pathogenic; Pathogenic |
rs759766243, rs1057518795 |
RCV000415297 RCV000415161 |
| Esophageal squamous cell carcinoma |
Pathogenic |
rs730882215 |
RCV004798788 |
| Global developmental delay |
Pathogenic |
rs730882215 |
RCV000162124 |
| Malignant tumor of esophagus |
Pathogenic; Likely pathogenic |
rs2151386374, rs756762196, rs1131691285, rs1597207802, rs199628364 |
RCV002246819 RCV000763386 RCV005899780 RCV000991459 RCV002249620 |
| Neurodevelopmental delay |
Pathogenic |
rs375757102, rs1567625065 |
RCV002274210 RCV002274439 |
| Neurodevelopmental disorders |
Pathogenic |
rs1394607357 |
RCV001814273 |
| See cases |
Likely pathogenic; Pathogenic |
rs587777127, rs1300924648 |
RCV002252153 RCV002252255 |
| West syndrome |
Likely pathogenic; Pathogenic |
rs1300924648 |
RCV003489939 |
| WWOX-related diosrder |
Pathogenic |
rs587777248 |
RCV005862977 |
| WWOX-related disorder |
Pathogenic; Likely pathogenic |
rs730882215, rs756762196, rs2507215578, rs1300924648, rs199628364 |
RCV003398828 RCV004752809 RCV003399867 RCV005870932 RCV003411947 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
34948746 |
| Aging Premature |
Associate |
34852950 |
| Alzheimer Disease |
Associate |
22193544, 34852950, 35627222, 36553611, 38232788, 40139278 |
| Arteriolosclerosis |
Associate |
34852950 |
| Astrocytoma |
Associate |
24503545 |
| Ataxia |
Associate |
25802472 |
| Autism Spectrum Disorder |
Associate |
27569545, 32081867 |
| Autistic Disorder |
Associate |
37583270 |
| Bicuspid Aortic Valve Disease |
Associate |
36071494 |
| Brain Diseases |
Associate |
27495153, 29852413, 30362252, 34268881, 37974179 |
| Breast Neoplasms |
Inhibit |
15064722, 20401669 |
| Breast Neoplasms |
Associate |
15073846, 15692750, 19130459, 19188760, 21347750, 22806168, 25417742, 30285739, 35290621, 37248434 |
| Calcinosis Cutis |
Inhibit |
32300104 |
| Carcinogenesis |
Inhibit |
14526170, 20535528 |
| Carcinogenesis |
Associate |
16152610, 16187332, 16895604, 18047428, 18061530, 18629536, 19188760, 20480411, 23370280, 29164763, 29310145, 35290621, 35563688 |
| Carcinoma Basal Cell |
Inhibit |
20401669 |
| Carcinoma Giant Cell |
Associate |
23849374 |
| Carcinoma Hepatocellular |
Associate |
15266310, 24969559, 26010871, 28426730, 30242144, 32931356, 36587184 |
| Carcinoma Hepatocellular |
Inhibit |
18620777, 22736928 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
15692750 |
| Carcinoma Non Small Cell Lung |
Associate |
20480411 |
| Carcinoma Ovarian Epithelial |
Associate |
15870886, 27190995, 28749468 |
| Carcinoma Squamous Cell |
Associate |
24008736 |
| Cell Transformation Neoplastic |
Associate |
18460020 |
| Cholangiocarcinoma |
Inhibit |
18629536, 25502636 |
| Cognition Disorders |
Associate |
33958783, 40139278 |
| Colonic Diseases |
Associate |
24938873 |
| Colorectal Neoplasms |
Associate |
21347750, 22860045, 24938873, 26010871, 39332629 |
| Coronary Artery Disease |
Associate |
24098343 |
| Death |
Associate |
24456803, 25802472, 27495153, 35715422 |
| Dementia |
Associate |
34852950, 37328865 |
| Developmental Disabilities |
Associate |
27495153, 37583270 |
| Disease |
Associate |
25802472 |
| Disorder of Sex Development 46 XY |
Associate |
22071891 |
| Dyslipidemias |
Associate |
33612478 |
| Epilepsy |
Associate |
24456803, 25802472, 27495153, 37095367, 40191585 |
| Epileptic Encephalopathy Early Infantile 3 |
Associate |
34268881 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
37583270 |
| Fractures Spontaneous |
Associate |
25802472 |
| Genetic Diseases Inborn |
Associate |
24456803 |
| Glioblastoma |
Associate |
20535528, 24503545, 25051421, 25595187, 31456594 |
| Glioma |
Associate |
26910372 |
| Gonadal Disorders |
Associate |
22071891 |
| Growth Disorders |
Associate |
24456803, 27495153 |
| Haspeslagh Fryns Muelenaere syndrome |
Stimulate |
26120275 |
| Head and Neck Neoplasms |
Associate |
32669614 |
| Hemangioblastoma |
Associate |
28742274 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
15073846, 30285739, 35290621 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit |
21347750 |
| Hippocampal Sclerosis |
Associate |
34852950 |
| HIV Infections |
Associate |
19832807 |
| Hyperlipidemia Familial Combined |
Associate |
20942981 |
| Hyperphosphatemia |
Associate |
22479346 |
| Hypertension |
Associate |
22479346 |
| Hypertensive Retinopathy |
Associate |
24456803 |
| Hypoglycemia |
Associate |
22479346 |
| Intellectual Disability |
Associate |
27495153, 30362252 |
| Intracranial Aneurysm |
Associate |
26910372 |
| Language Development Disorders |
Associate |
27569545 |
| Language Disorders |
Associate |
24949445 |
| Leprosy Tuberculoid |
Associate |
25802472 |
| Leukoplakia Oral |
Associate |
18061530 |
| limbic predominant age related TDP 43 encephalopathy |
Associate |
34852950 |
| Lung Neoplasms |
Associate |
17890317, 25517572, 34948746 |
| Lymphatic Metastasis |
Associate |
21069451, 30013442 |
| Lymphoma Non Hodgkin |
Associate |
19832807, 20651033 |
| Lymphoma Primary Effusion |
Associate |
21685375 |
| Meningioma |
Associate |
24503545 |
| Microcephaly |
Associate |
24456803, 37583270 |
| Microsatellite Instability |
Inhibit |
22860045 |
| Mouth Neoplasms |
Associate |
16152610, 27655721 |
| Movement Disorders |
Associate |
37583270 |
| Multiple Myeloma |
Associate |
17609426 |
| Muscle Hypotonia |
Associate |
37583270 |
| Nasopharyngeal Carcinoma |
Inhibit |
23534718 |
| Nasopharyngeal Carcinoma |
Associate |
32101017 |
| Neoplasm Invasiveness |
Associate |
28426730 |
| Neoplasm Metastasis |
Inhibit |
32300104 |
| Neoplasm Metastasis |
Associate |
37324196 |
| Neoplasms |
Inhibit |
14526170, 15070730, 15870886, 15982416, 16152610, 16187332, 16941225, 17679088, 17704139, 17890317, 18061530, 18452537, 18460020, 18620777, 19484134, 20480411, 20535528, 21276135, 21347750, 21685375, 22193544, 22860045, 23317259, 24008736, 24503545, 24550385, 25051421, 25802472, 26010871, 26120275, 26857392, 26910372, 27572307, 27655721, 28426730, 28749468, 29164763, 29310145, 32096174, 32300104, 33691672, 37248434, 37324196, 37930698 View all (29 more) |
| Neoplasms |
Associate |
15064722, 15073846, 15266310, 16152610, 16895604, 17609426, 19130459, 19352382, 19434452, 19700237, 21069451, 22736928, 23370280, 23534718, 24456803, 24938873, 24969559, 25595187, 25612104, 25934800, 26857392, 27190995, 27495153, 27501229, 27655721, 28426730, 29845204, 32552875, 33455117, 34948746, 36587184, 37461096 View all (17 more) |
| Nerve Degeneration |
Associate |
25802472 |
| Nervous System Neoplasms |
Associate |
24503545 |
| Neurilemmoma |
Associate |
24503545 |
| Neurodegenerative Diseases |
Associate |
25802472 |
| Non alcoholic Fatty Liver Disease |
Associate |
36587184 |
| Osteogenesis imperfecta type 1A |
Associate |
26910372 |
| Osteosarcoma |
Associate |
24330824, 25418192, 33455117 |
| Osteosarcoma |
Inhibit |
29845204 |
| Ovarian Diseases |
Associate |
15870886 |
| Ovarian Neoplasms |
Inhibit |
15982416 |
| Ovarian Neoplasms |
Associate |
21069451, 25891642, 27190995, 28749468, 32096174 |
| Pancreatic Intraductal Neoplasms |
Associate |
19352382 |
| Pancreatic Neoplasms |
Inhibit |
18460020, 19352382, 19434452 |
| Pancreatic Neoplasms |
Associate |
26857392 |
| Pancreatitis |
Associate |
19352382 |
| Parkinson Disease |
Associate |
33958783, 35053314, 37328865, 40139278 |
| Personality Disorders |
Associate |
27655721 |
| Precancerous Conditions |
Inhibit |
18460020 |
| Precancerous Conditions |
Associate |
19700237 |
| Prostate cancer familial |
Associate |
19035517 |
| Prostate Cancer Hereditary 7 |
Associate |
21965145 |
| Prostatic Neoplasms |
Inhibit |
17704139, 19035517 |
| Prostatic Neoplasms |
Associate |
19035517, 19484134, 21965145, 37324196 |
| Prostatitis |
Associate |
21965145 |
| Pterygium |
Associate |
26120275 |
| Pulmonary Disease Chronic Obstructive |
Associate |
25517572, 26902998 |
| Retinal Degeneration |
Associate |
24456803 |
| Retinal Dysplasia |
Associate |
18061530 |
| Seizures |
Associate |
27495153, 30362252, 31618474, 35715422 |
| Severe Acute Respiratory Syndrome |
Associate |
35715422 |
| Small Cell Lung Carcinoma |
Associate |
21276135 |
| Spasm |
Associate |
37583270 |
| Spasms Infantile |
Associate |
37583270 |
| Spherocytosis Type 1 |
Associate |
34852950 |
| Spinocerebellar Ataxia 12 |
Associate |
34268881 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
16152610, 18061530, 25612104, 27501229, 29164763 |
| Syndrome |
Associate |
37974179 |
| Tertiary Lymphoid Structures |
Associate |
34948746 |
| Thyroid Cancer Papillary |
Inhibit |
18047428 |
| Thyroid Neoplasms |
Inhibit |
18047428 |
| Triple Negative Breast Neoplasms |
Inhibit |
21069451 |
| Triple Negative Breast Neoplasms |
Associate |
32300104, 39473747 |
| Uniparental Disomy |
Associate |
30362252 |
| Urinary Bladder Neoplasms |
Inhibit |
18452537 |
| Urinary Bladder Neoplasms |
Associate |
33691672, 35563688 |
| Uterine Cervical Dysplasia |
Inhibit |
18460020 |
| Uterine Cervical Neoplasms |
Associate |
19700237, 29310145, 30013442 |
|