| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ATXN1-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs11969612, rs751421308, rs112175378, rs193922926, rs148490141, rs555394805, rs201987168, rs771255360, rs34324423, rs766029394, rs144411643, rs754100060, rs139148755, rs539283031, rs749872352, rs745503316, rs1554138052, rs777923390, rs758319764, rs1554138045, rs199744696 View all (6 more) |
RCV003973219 RCV003966209 RCV003921352 RCV003974128 RCV003982939 RCV003977554 RCV003963730 RCV003974334 RCV003904234 RCV003964580 RCV003892311 RCV003914179 RCV003984593 RCV003904768 RCV003959593 RCV003927270 RCV003949870 RCV003939379 RCV003949520 RCV003949533 RCV003956964 RCV003971404 RCV003932221 RCV003981308 RCV003919808 RCV003980212 RCV003908443 |
| Malignant lymphoma, large B-cell, diffuse |
Likely benign |
rs2075974 |
RCV005887976 |
| Schizophrenia |
Uncertain significance |
rs2480753417 |
RCV002463487 |
| Squamous cell carcinoma of the head and neck |
Likely benign |
rs2075974 |
RCV005887975 |
| Tip-toe gait |
Uncertain significance; Conflicting classifications of pathogenicity |
rs528819863, rs144962740 |
RCV001352904 RCV002225250 |
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Drug Induced |
Associate |
23294540 |
| Alzheimer Disease |
Associate |
20308783, 22486522 |
| Amyotrophic Lateral Sclerosis |
Associate |
35525134, 35869263 |
| Anxiety |
Associate |
37029353 |
| Ataxia |
Associate |
23935513, 37592453, 8037204 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
21302343 |
| Breast Neoplasms |
Associate |
28212558, 32420379 |
| Carcinogenesis |
Associate |
28212558 |
| Central Nervous System Neoplasms |
Associate |
35836290 |
| Cerebellar Ataxia |
Associate |
22520093, 7922453 |
| Cerebellar Diseases |
Associate |
35869263 |
| Cerebral Infarction |
Associate |
32633380 |
| Cognition Disorders |
Associate |
23294540 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate |
18231590 |
| COVID 19 |
Associate |
35328087 |
| Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema |
Associate |
29221444 |
| Disease |
Associate |
34372915 |
| Epilepsy |
Associate |
32633380, 35354251 |
| Fibrosis |
Associate |
36976650 |
| Friedreich Ataxia |
Associate |
9429138 |
| Frontotemporal Dementia |
Associate |
37146135 |
| Gambling |
Associate |
22780124 |
| Genetic Diseases Inborn |
Associate |
23528090, 30933216 |
| Glioma |
Associate |
32600379 |
| Hearing Loss |
Associate |
34286861 |
| Hypoxia |
Inhibit |
28212558 |
| Intellectual Disability |
Associate |
23294540 |
| Interstitial Pneumonitis Desquamative Familial |
Associate |
24825461 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
17116127 |
| Leukemia Myeloid Acute |
Associate |
8750194 |
| Leukemia Prolymphocytic T Cell |
Associate |
17116127 |
| Lymphoproliferative Disorders |
Associate |
24377530 |
| Machado Joseph Disease |
Associate |
21909428, 7922453 |
| Machado Joseph Disease |
Stimulate |
9106530 |
| Mental Disorders |
Associate |
21302343 |
| Multiple Sclerosis |
Associate |
35903875 |
| Myopia |
Associate |
36036911 |
| Myotonic Dystrophy |
Associate |
38308084 |
| Neoplasms |
Associate |
24377530, 28212558, 29560860, 31617074 |
| Neurodegenerative Diseases |
Associate |
12700301, 15292212, 28212558, 35903875 |
| Neurotoxicity Syndromes |
Associate |
35354251 |
| Oligospermia |
Associate |
19597981 |
| Osteoarthritis |
Associate |
24825461 |
| Parkinson Disease Secondary |
Associate |
22623900 |
| Plaque Atherosclerotic |
Associate |
29221444 |
| Psychotic Disorders |
Associate |
16380905 |
| Retinopathy of Prematurity |
Associate |
37894989 |
| Sarcoma |
Associate |
35836290 |
| Schizophrenia |
Associate |
16380905, 31175266 |
| Seizures |
Associate |
35354251 |
| Spinocerebellar Ataxias |
Associate |
11986402, 15750336, 1676561, 18231590, 1928103, 20037628, 2063871, 22666429, 23528090, 25344417, 27106293, 28212558, 29057148, 29656178, 31381977, 32145456, 32335388, 34635619, 35903875, 35906672, 36459834, 38578603, 39289638, 39307401, 39456985, 8037204, 8912795 View all (12 more) |
| Spinocerebellar Ataxias |
Stimulate |
29316893 |
| Spinocerebellar Degenerations |
Stimulate |
24708620 |
| Spinocerebellar Degenerations |
Associate |
31645175 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
33146897 |
| Substance Related Disorders |
Associate |
36078646 |
| Tongue Neoplasms |
Associate |
33146897 |
| Tremor |
Associate |
29057148 |
| Uterine Cervical Neoplasms |
Associate |
28212558 |
| Vascular Remodeling |
Associate |
36976650 |
| Ventricular Remodeling |
Associate |
36976650 |
|