rs4704
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4704(C;T) |
| Make rs4704(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 20656138 |
| Gene | DDOST |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4704 |
| dbSNP (classic) | rs4704 |
| ClinGen | rs4704 |
| ebi | rs4704 |
| HLI | rs4704 |
| Exac | rs4704 |
| Gnomad | rs4704 |
| Varsome | rs4704 |
| LitVar | rs4704 |
| Map | rs4704 |
| PheGenI | rs4704 |
| Biobank | rs4704 |
| 1000 genomes | rs4704 |
| hgdp | rs4704 |
| ensembl | rs4704 |
| geneview | rs4704 |
| scholar | rs4704 |
| rs4704 | |
| pharmgkb | rs4704 |
| gwascentral | rs4704 |
| openSNP | rs4704 |
| 23andMe | rs4704 |
| SNPshot | rs4704 |
| SNPdbe | rs4704 |
| MSV3d | rs4704 |
| GWAS Ctlg | rs4704 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 27876828
] Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.
| ClinVar | |
|---|---|
| Risk | rs4704(T;T) |
| Alt | rs4704(T;T) |
| Reference | Rs4704(C;C) |
| Significance | Non-pathogenic |
| Disease | Parkinson Disease Congenital disorder of glycosylation not specified |
| Variation | info |
| Gene | DDOST |
| CLNDBN | Parkinson Disease, Recessive Congenital disorder of glycosylation not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.20982631G>A |
| CLNSRC | |
| CLNACC | RCV000367660.1, RCV000372235.1, RCV000427492.1, |
