|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Gastric cancer |
Uncertain significance |
rs772356783 |
RCV005939343 |
| Germ cell tumor of testis |
Benign |
rs2246662 |
RCV005922475 |
| NFASC-related disorder |
Benign; Conflicting classifications of pathogenicity; Likely benign |
rs4951151, rs6667532, rs17415240, rs375852982, rs146213953, rs183209390, rs143897854, rs114428700, rs142292676, rs147568795, rs200128800, rs141864015, rs199749786, rs368525780, rs1197779263, rs775692003, rs55678495, rs192014745, rs7545613, rs147248519, rs148110537, rs184503324, rs146983685, rs2095095688, rs6657372, rs61741829, rs531123483, rs369599367, rs538088087, rs12084475, rs769331047, rs145069911, rs140997318, rs193298144, rs374173119, rs16854838, rs6690894, rs77635708, rs61743235 View all (24 more) |
RCV003984012 RCV003975787 RCV003916420 RCV003973411 RCV003936670 RCV003928935 RCV003919042 RCV003906707 RCV003936758 RCV003956640 RCV003939271 RCV003931361 RCV003931363 RCV003909390 RCV003923870 RCV003981535 RCV003984627 RCV003916770 RCV003916923 RCV003916994 RCV003909674 RCV003941808 RCV003933957 RCV003934036 RCV003972078 RCV003917155 RCV003931695 RCV003941500 RCV003941657 RCV003944527 RCV003914461 RCV003924409 RCV003951512 RCV003942232 RCV003971425 RCV003915976 RCV003936026 RCV003968144 RCV003958056 |
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate |
35370935 |
| Adenomyosis |
Associate |
19368910 |
| Amyotrophic Lateral Sclerosis |
Associate |
12730211, 24704493, 29959860, 30029677, 32515902 |
| Autoimmune Diseases |
Associate |
29187518 |
| Autoimmune Diseases of the Nervous System |
Associate |
29187518 |
| Basal Ganglia Diseases |
Associate |
21278408 |
| Bipolar Disorder |
Associate |
40123161 |
| Breast Neoplasms |
Associate |
25169499, 35403930 |
| Carcinoma Hepatocellular |
Associate |
31163018 |
| Carcinoma Merkel Cell |
Associate |
30349028 |
| Carcinoma Non Small Cell Lung |
Associate |
28418179 |
| Cardiomyopathies |
Associate |
32631246 |
| Cerebellar Ataxia |
Associate |
30850329 |
| Charcot Marie Tooth disease Type 2E |
Associate |
26109717 |
| Demyelinating Diseases |
Associate |
30850329, 31501903 |
| Developmental Disabilities |
Associate |
30850329, 31501903 |
| Diffuse Neurofibrillary Tangles with Calcification |
Associate |
21828286 |
| Endometriosis |
Associate |
37555920 |
| Genetic Diseases Inborn |
Associate |
31501903 |
| Glioma |
Associate |
34169995 |
| Guillain Barre Syndrome |
Associate |
29187518 |
| Intellectual Disability |
Associate |
31501903, 9804856 |
| Leiomyoma |
Associate |
19368910 |
| Lung Neoplasms |
Associate |
28418179 |
| Macrothrombocytopenia X Linked |
Associate |
11809723 |
| Medulloblastoma |
Associate |
2478022 |
| Motor Disorders |
Associate |
31501903 |
| Muscular Atrophy Spinal |
Associate |
37458045 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate |
31501903 |
| Neoplasm Metastasis |
Associate |
28418179, 31163018 |
| Neoplasms |
Associate |
1331003, 17085830, 35663322 |
| Neoplasms |
Stimulate |
28418179 |
| Nerve Degeneration |
Associate |
21278408, 24704493, 30029677 |
| Nervous System Diseases |
Associate |
30850329, 31501903 |
| Neuroblastoma |
Associate |
2123747 |
| Neurodegenerative Diseases |
Associate |
37848414 |
| Neuroendocrine Tumors |
Associate |
1331003 |
| Optic Nerve Diseases |
Associate |
21593627 |
| Pancreatic Neoplasms |
Associate |
24971005 |
| Peripheral Nervous System Diseases |
Associate |
29187518 |
| Polyradiculoneuropathy |
Associate |
31501903 |
| Polyradiculoneuropathy Chronic Inflammatory Demyelinating |
Associate |
29187518, 30850329 |
| Prostatic Neoplasms |
Associate |
26979803 |
| Speech Disorders |
Associate |
31501903 |
| Spinocerebellar Degenerations |
Associate |
30850329 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
29719198 |
| Trauma Nervous System |
Associate |
22897631 |
| Tremor |
Associate |
30850329 |
| Trigeminal Nerve Diseases |
Associate |
29187518 |
| Urinary Bladder Neoplasms |
Associate |
33720323 |
|