rs775129424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs775129424(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 134898383 |
| Gene | ACMSD, CCNT2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775129424 |
| dbSNP (classic) | rs775129424 |
| ClinGen | rs775129424 |
| ebi | rs775129424 |
| HLI | rs775129424 |
| Exac | rs775129424 |
| Gnomad | rs775129424 |
| Varsome | rs775129424 |
| LitVar | rs775129424 |
| Map | rs775129424 |
| PheGenI | rs775129424 |
| Biobank | rs775129424 |
| 1000 genomes | rs775129424 |
| hgdp | rs775129424 |
| ensembl | rs775129424 |
| geneview | rs775129424 |
| scholar | rs775129424 |
| rs775129424 | |
| pharmgkb | rs775129424 |
| gwascentral | rs775129424 |
| openSNP | rs775129424 |
| 23andMe | rs775129424 |
| SNPshot | rs775129424 |
| SNPdbe | rs775129424 |
| MSV3d | rs775129424 |
| GWAS Ctlg | rs775129424 |
| Max Magnitude | 0 |
A mutation in the ACMSD gene, rs775129424(A), also known as p.Glu298Lys or E298K, is considered to be the likely cause of Parkinson's disease in a male diagnosed at age 74. It appeared to be a sporadic (de novo) germline mutation, acting in a dominant manner.[PMID 28671144
]
