rs1060502543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATG;ATG) | 0 | common in clinvar |
Make rs1060502543(-;-) |
Make rs1060502543(-;GAT) |
Make rs1060502543(GAT;GAT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54727503 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs1060502543 |
dbSNP (classic) | rs1060502543 |
ClinGen | rs1060502543 |
ebi | rs1060502543 |
HLI | rs1060502543 |
Exac | rs1060502543 |
Gnomad | rs1060502543 |
Varsome | rs1060502543 |
LitVar | rs1060502543 |
Map | rs1060502543 |
PheGenI | rs1060502543 |
Biobank | rs1060502543 |
1000 genomes | rs1060502543 |
hgdp | rs1060502543 |
ensembl | rs1060502543 |
geneview | rs1060502543 |
scholar | rs1060502543 |
rs1060502543 | |
pharmgkb | rs1060502543 |
gwascentral | rs1060502543 |
openSNP | rs1060502543 |
23andMe | rs1060502543 |
SNPshot | rs1060502543 |
SNPdbe | rs1060502543 |
MSV3d | rs1060502543 |
GWAS Ctlg | rs1060502543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502543(-;-) |
Alt | rs1060502543(-;-) |
Reference | Rs1060502543(ATG;ATG) |
Significance | Probable-Pathogenic |
Disease | Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55593669_55593671delGAT |
CLNSRC | |
CLNACC | RCV000458760.1, |