rs200375589
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200375589(A;A) |
| Make rs200375589(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 54727442 |
| Gene | KIT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200375589 |
| dbSNP (classic) | rs200375589 |
| ClinGen | rs200375589 |
| ebi | rs200375589 |
| HLI | rs200375589 |
| Exac | rs200375589 |
| Gnomad | rs200375589 |
| Varsome | rs200375589 |
| LitVar | rs200375589 |
| Map | rs200375589 |
| PheGenI | rs200375589 |
| Biobank | rs200375589 |
| 1000 genomes | rs200375589 |
| hgdp | rs200375589 |
| ensembl | rs200375589 |
| geneview | rs200375589 |
| scholar | rs200375589 |
| rs200375589 | |
| pharmgkb | rs200375589 |
| gwascentral | rs200375589 |
| openSNP | rs200375589 |
| 23andMe | rs200375589 |
| SNPshot | rs200375589 |
| SNPdbe | rs200375589 |
| MSV3d | rs200375589 |
| GWAS Ctlg | rs200375589 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200375589(A;A) rs200375589(C;C) rs200375589(T;T) |
| Alt | rs200375589(A;A) rs200375589(C;C) rs200375589(T;T) |
| Reference | Rs200375589(G;G) |
| Significance | Pathogenic |
| Disease | Gastrointestinal stromal tumor Malignant melanoma |
| Variation | info |
| Gene | KIT |
| CLNDBN | Gastrointestinal stromal tumor Malignant melanoma |
| Reversed | 0 |
| HGVS | NC_000004.11:g.55593608G>A; NC_000004.11:g.55593608G>C; NC_000004.11:g.55593608G>T |
| CLNSRC | |
| CLNACC | RCV000205733.3, RCV000443034.1, RCV000426003.1, RCV000436617.1, |
