|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Amyotrophic lateral sclerosis |
risk factor |
rs531550505 |
RCV001260552 |
| Familial cancer of breast |
Benign |
rs7168401 |
RCV005902160 |
| Malignant lymphoma, large B-cell, diffuse |
Conflicting classifications of pathogenicity; Benign |
rs373273269, rs7168401 |
RCV005901137 RCV005902161 |
| NIPA1-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign |
rs758551462, rs139372534, rs2503821086, rs1285562776, rs748800105, rs199718530, rs531550505, rs769522060, rs759267223, rs754979501 |
RCV003968587 RCV003940067 RCV003412529 RCV003893724 RCV003934059 RCV003930350 RCV004755925 RCV003938246 RCV003960629 RCV003960824 |
| See cases |
Uncertain significance |
rs765470587 |
RCV002252391 |
| Spastic paraplegia, autosomal dominant |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs531550505, rs886051009, rs199507682, rs3057642, rs547238314, rs747886565, rs547634456, rs548458173, rs113532349, rs140112208, rs10611411, rs556665515, rs527532188, rs764504513, rs746846799, rs886050987 View all (1 more) |
RCV000272705 RCV000368522 RCV000325461 RCV000318123 RCV000266600 RCV000314207 RCV000371983 RCV000398319 RCV000297882 RCV000387862 RCV000268923 RCV000287470 RCV000272382 RCV000298971 RCV000343476 RCV000317044 RCV000378535 RCV000350009 |
| Uterine carcinosarcoma |
Benign |
rs7168401 |
RCV005902162 |
|
| Disease Name |
Relationship Type |
References |
| Amyotrophic Lateral Sclerosis |
Associate |
30342764, 33414559, 35869263 |
| Anorexia Nervosa |
Associate |
30878790 |
| Atrophy |
Stimulate |
16143870 |
| Autism Spectrum Disorder |
Associate |
33562221 |
| Autistic Disorder |
Associate |
16183798, 30878790 |
| Cerebellar Diseases |
Associate |
35869263 |
| Cognition Disorders |
Associate |
22302102 |
| Developmental Disabilities |
Associate |
34680874 |
| Diabetes Mellitus Type 2 |
Associate |
25733456 |
| Fetal Growth Retardation |
Associate |
30342661 |
| Heart Defects Congenital |
Associate |
25205790 |
| Hydrocephalus |
Associate |
30342661 |
| Language Development Disorders |
Associate |
28254235 |
| Mental Disorders |
Associate |
34680874 |
| Microcephaly |
Associate |
30342661 |
| Motor Neuron Disease |
Associate |
22302102 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate |
14508710 |
| Neurobehavioral Manifestations |
Associate |
30878790 |
| Neurodegenerative Diseases |
Associate |
14508710 |
| Prader Willi Syndrome |
Associate |
14993551, 16982806, 19620182, 22302102, 30342764, 33678338 |
| Schizophrenia |
Associate |
30878790 |
| Spastic paraplegia 4 autosomal dominant |
Associate |
9847083 |
| Spastic Paraplegia Hereditary |
Associate |
14508710, 16143870, 22302102, 30342764 |
| Spinal Cord Diseases |
Stimulate |
16143870 |
| TDP 43 Proteinopathies |
Associate |
22302102 |
| Uveal melanoma |
Associate |
31903983 |
|