| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs144711161 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs145974361 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs149070832 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
| rs200115379 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant |
| rs376576474 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs567050969 |
C>T |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant |
| rs749731714 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs753496815 |
->GA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs756616538 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs766256391 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs766707325 |
GACCCAT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs770372463 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs776176679 |
C>T |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant |
| rs1561836628 |
A>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs1562782355 |
AG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1582865345 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| DNAH8-related disorder |
Likely pathogenic; Pathogenic |
rs144711161, rs2532361573, rs2533985932, rs758035061 |
RCV003417812 RCV003419156 RCV003392957 RCV003394395 |
| Inherited obesity |
Pathogenic |
rs149070832 |
RCV005414539 |
| Primary ciliary dyskinesia |
Pathogenic; Likely pathogenic |
rs2127637299, rs767180208, rs1297488496, rs2150536009, rs765386646, rs150428096, rs1299196993, rs201568629, rs777610268, rs777613343, rs2150520528, rs2150400998, rs1250753880, rs781634544, rs781128315, rs771580014, rs1032638497, rs199969537, rs753062783, rs769126261, rs2533394646, rs2532519909, rs201009563, rs2533556336, rs776079621, rs753926744, rs1190884969, rs2532682220, rs144711161, rs758035061, rs1438128043, rs2533205148, rs1430752700, rs748507521, rs781224411, rs754334951, rs375764737, rs2533985399, rs1216207042, rs2533205504, rs751151452, rs753024616, rs2534078747, rs756919169, rs2532975061, rs2533918431, rs2533701153, rs2533450264, rs1488305206, rs2533069131, rs2533212514, rs2533317859, rs1775234077, rs754547680, rs752991804, rs765139051, rs777912337, rs776257226, rs1769760726, rs1771404948, rs369304378, rs766256391, rs1554132747, rs376576474, rs753496815, rs766707325, rs1437893220, rs770372463, rs749731714, rs145974361, rs1561836628, rs376903331, rs769929539, rs756616538, rs776176679, rs1562782355, rs1223799853, rs776791493, rs149070832, rs747123680, rs1582865345, rs200115379, rs372080325, rs1416631904, rs753831132, rs756851431, rs545867507, rs1769605097, rs1772190647, rs1768809177, rs747550558, rs752692263 View all (77 more) |
RCV001387978 RCV001389130 RCV001383007 RCV001389347 RCV001386198 RCV001386442 RCV001382267 RCV001924917 RCV001950767 RCV001946690 RCV001916141 RCV002002540 RCV001958677 RCV002040921 RCV003058658 RCV003086020 RCV003076050 RCV002579020 RCV002662549 RCV002653693 RCV002819923 RCV002837619 RCV002866859 RCV002872214 RCV002886195 RCV002882237 RCV002957927 RCV003047773 RCV000228661 RCV005099991 RCV003536113 RCV003536427 RCV003537554 RCV003537647 RCV003538933 RCV003539123 RCV003539061 RCV003536904 RCV003537014 RCV003536743 RCV003538241 RCV003648024 RCV003647514 RCV003647292 RCV003647293 RCV003651099 RCV003651096 RCV003651152 RCV003651190 RCV003651191 RCV003652359 RCV003652659 RCV003652777 RCV003649861 RCV003650057 RCV003650178 RCV003650275 RCV003651667 RCV003651357 RCV003651704 RCV003838907 RCV003872247 RCV000461675 RCV000535093 RCV000545575 RCV000524761 RCV000629379 RCV000629371 RCV000629354 RCV000629385 RCV000704988 RCV000686591 RCV000704751 RCV000685592 RCV000700010 RCV000700884 RCV000689710 RCV000703864 RCV000690985 RCV000809648 RCV000822721 RCV000813448 RCV000794179 RCV000803454 RCV001046662 RCV001048431 RCV001213978 RCV001225896 RCV001230655 RCV001226235 RCV001247703 RCV001243071 RCV003652117 |
| Spermatogenic failure 46 |
Likely pathogenic; Pathogenic |
rs199969537, rs2533558063, rs2533098735, rs766707325, rs376903331, rs776176679, rs753831132, rs1563044711, rs752692263, rs1762922751 |
RCV005356284 RCV003989172 RCV003990632 RCV005367463 RCV004760742 RCV005633645 RCV005400485 RCV001265116 RCV001265119 RCV001265120 |
|
|
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Multiple |
Associate |
33704367, 36308074 |
| Acidosis Renal Tubular |
Associate |
18632794 |
| Amyotrophic Lateral Sclerosis |
Associate |
26475856 |
| Asthenozoospermia |
Associate |
33611675, 37417617 |
| Ataxia |
Associate |
28807751 |
| Bipolar Disorder |
Associate |
20872768 |
| Bloom Syndrome |
Associate |
17878217, 19671661 |
| Breast Neoplasms |
Associate |
19889640, 23639630, 34329194, 9774623 |
| Carcinoma Hepatocellular |
Associate |
23233483, 30981109 |
| Carcinoma Pancreatic Ductal |
Associate |
36319832 |
| Carcinoma Renal Cell |
Associate |
34870494 |
| Carcinoma Small Cell |
Associate |
32649682, 6147348 |
| Cardiomyopathy Dilated |
Associate |
31578282 |
| Cardiomyopathy Hypertrophic Familial |
Associate |
8981935 |
| Cerebellar Ataxia |
Associate |
28807751, 35110381 |
| Cerebellar Diseases |
Associate |
22892528 |
| Ciliary Motility Disorders |
Associate |
24307375, 37998386 |
| Colorectal Neoplasms |
Associate |
15063740, 33476933 |
| Colorectal Neoplasms |
Stimulate |
35754345 |
| Congenital disorder of glycosylation type 1A |
Associate |
28807751 |
| Congenital Disorders of Glycosylation |
Associate |
28807751 |
| Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities |
Associate |
33704367 |
| Developmental Disabilities |
Associate |
32693025 |
| Diabetes Mellitus Transient Neonatal 1 |
Associate |
18025464, 23665564 |
| Diabetes Mellitus Type 2 |
Associate |
23665564 |
| Distal myopathy Nonaka type |
Associate |
19506019, 22270372, 26475856 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
35220010 |
| Dystonia |
Associate |
28871039, 35110381 |
| Endometriosis |
Associate |
25276049 |
| Epilepsy |
Stimulate |
32748370 |
| Facioscapulohumeral Muscular Dystrophy 1B |
Associate |
31312724 |
| Familial Primary Pulmonary Hypertension |
Associate |
22792409 |
| Frontotemporal Dementia |
Associate |
22270372, 26475856 |
| Gastritis Atrophic |
Associate |
34944008 |
| Genetic Diseases Inborn |
Associate |
34360842 |
| Glioblastoma |
Associate |
35220010 |
| Growth Disorders |
Associate |
32693025 |
| Heart Diseases |
Associate |
12151382, 23515276 |
| Heart Failure |
Associate |
36834924 |
| Hepatolenticular Degeneration |
Associate |
11415452, 12968035, 14514926, 15205462, 17634212, 18974300, 19364131 |
| Heredodegenerative Disorders Nervous System |
Associate |
31701538 |
| Hyperaldosteronism |
Associate |
33796077 |
| Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia |
Associate |
34360842 |
| Infertility Male |
Associate |
33611675, 33704367 |
| Influenza Human |
Associate |
22393008 |
| Kufor Rakeb syndrome |
Associate |
37080960 |
| Leigh Disease |
Associate |
15146020, 15228605, 9221962 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
17480228 |
| Leukemia Myeloid Acute |
Associate |
31178587 |
| Liver Failure Acute |
Associate |
24630891 |
| Liver Neoplasms |
Associate |
34360842 |
| Lung Neoplasms |
Associate |
31883965, 40311306 |
| Melanoma |
Associate |
19784067 |
| MELAS Syndrome |
Associate |
9221962 |
| Migraine with Aura |
Associate |
35110381 |
| Mitochondrial Diseases |
Associate |
9221962 |
| Mitochondrial Encephalomyopathies |
Associate |
19735676 |
| Moyamoya Disease |
Associate |
24658080 |
| Muscle Hypotonia |
Associate |
28807751 |
| Myocardial Infarction |
Associate |
28728608 |
| Myopathy Myosin Storage |
Associate |
8981935 |
| Neoplasms |
Associate |
23233483, 24439526, 24878061, 26139243, 27363033, 30647132, 31883965, 34520757, 35607442, 37197441 |
| Nervous System Diseases |
Associate |
34059105, 35132656 |
| Neurodegenerative Diseases |
Associate |
24878061, 26475856, 36316435 |
| Nystagmus Pathologic |
Associate |
28807751 |
| Osteitis Deformans |
Associate |
26475856 |
| Ovarian Cysts |
Associate |
33235102 |
| Ovarian Neoplasms |
Associate |
25686833, 29559470 |
| Pancreatitis Acute Necrotizing |
Associate |
9221962 |
| Parkinson Disease |
Associate |
19097176 |
| Parkinson Disease Secondary |
Associate |
31132336 |
| Peripheral Nervous System Diseases |
Associate |
34059105 |
| Plagiocephaly and X linked mental retardation |
Associate |
32693025 |
| Polyomavirus Infections |
Associate |
19200446 |
| Positive Pressure Respiration Intrinsic |
Associate |
21310790 |
| Prostatic Neoplasms |
Associate |
27363033, 37301535 |
| Pulmonary Disease Chronic Obstructive |
Associate |
26736064 |
| Respiratory Distress Syndrome |
Associate |
27374344, 36480289 |
| Respiratory Insufficiency |
Associate |
22532554 |
| Retinitis Pigmentosa |
Associate |
27072132 |
| Sarcoidosis |
Associate |
21310790 |
| Schimke immunoosseous dysplasia |
Associate |
18974355, 26195148 |
| Sitosterolemia |
Associate |
33228147 |
| Spastic Paraplegia Hereditary |
Associate |
36316435 |
| Stroke |
Associate |
24344137 |
| Thyroid Cancer Papillary |
Associate |
26079849 |
| Trichohepatoenteric Syndrome |
Associate |
20176027 |
| Triosephosphate Isomerase Deficiency |
Stimulate |
9294216 |
| Tuberculosis Multidrug Resistant |
Associate |
26902225 |
|