rs988395114
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs988395114(A;A) |
| Make rs988395114(A;G) |
| Make rs988395114(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 54845787 |
| Gene | GCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs988395114 |
| dbSNP (classic) | rs988395114 |
| ClinGen | rs988395114 |
| ebi | rs988395114 |
| HLI | rs988395114 |
| Exac | rs988395114 |
| Gnomad | rs988395114 |
| Varsome | rs988395114 |
| LitVar | rs988395114 |
| Map | rs988395114 |
| PheGenI | rs988395114 |
| Biobank | rs988395114 |
| 1000 genomes | rs988395114 |
| hgdp | rs988395114 |
| ensembl | rs988395114 |
| geneview | rs988395114 |
| scholar | rs988395114 |
| rs988395114 | |
| pharmgkb | rs988395114 |
| gwascentral | rs988395114 |
| openSNP | rs988395114 |
| 23andMe | rs988395114 |
| SNPshot | rs988395114 |
| SNPdbe | rs988395114 |
| MSV3d | rs988395114 |
| GWAS Ctlg | rs988395114 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs988395114(T;T) |
| Alt | rs988395114(T;T) |
| Reference | Rs988395114(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | GCH1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.55312505C>T |
| CLNSRC | |
| CLNACC | RCV000440945.1, |
