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, |