rs1043953
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1043953(A;G) |
| Make rs1043953(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 14142258 |
| Gene | TMEM43 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1043953 |
| dbSNP (classic) | rs1043953 |
| ClinGen | rs1043953 |
| ebi | rs1043953 |
| HLI | rs1043953 |
| Exac | rs1043953 |
| Gnomad | rs1043953 |
| Varsome | rs1043953 |
| LitVar | rs1043953 |
| Map | rs1043953 |
| PheGenI | rs1043953 |
| Biobank | rs1043953 |
| 1000 genomes | rs1043953 |
| hgdp | rs1043953 |
| ensembl | rs1043953 |
| geneview | rs1043953 |
| scholar | rs1043953 |
| rs1043953 | |
| pharmgkb | rs1043953 |
| gwascentral | rs1043953 |
| openSNP | rs1043953 |
| 23andMe | rs1043953 |
| SNPshot | rs1043953 |
| SNPdbe | rs1043953 |
| MSV3d | rs1043953 |
| GWAS Ctlg | rs1043953 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 25778469
] Genetic variants in DNA repair genes as potential predictive markers for oxaliplatin chemotherapy in colorectal cancer
| ClinVar | |
|---|---|
| Risk | rs1043953(G;G) |
| Alt | rs1043953(G;G) |
| Reference | Rs1043953(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Cardiomyopathy Xeroderma pigmentosum |
| Variation | info |
| Gene | TMEM43 |
| CLNDBN | Cardiomyopathy, ARVC Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14183758A>G |
| CLNSRC | |
| CLNACC | RCV000284996.1, RCV000295901.1, |
