rs1057520034
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs1057520034(AA;AA) |
Make rs1057520034(AA;TT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54727447 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs1057520034 |
dbSNP (classic) | rs1057520034 |
ClinGen | rs1057520034 |
ebi | rs1057520034 |
HLI | rs1057520034 |
Exac | rs1057520034 |
Gnomad | rs1057520034 |
Varsome | rs1057520034 |
LitVar | rs1057520034 |
Map | rs1057520034 |
PheGenI | rs1057520034 |
Biobank | rs1057520034 |
1000 genomes | rs1057520034 |
hgdp | rs1057520034 |
ensembl | rs1057520034 |
geneview | rs1057520034 |
scholar | rs1057520034 |
rs1057520034 | |
pharmgkb | rs1057520034 |
gwascentral | rs1057520034 |
openSNP | rs1057520034 |
23andMe | rs1057520034 |
SNPshot | rs1057520034 |
SNPdbe | rs1057520034 |
MSV3d | rs1057520034 |
GWAS Ctlg | rs1057520034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520034(AA;AA) |
Alt | rs1057520034(AA;AA) |
Reference | Rs1057520034(TT;TT) |
Significance | Probable-Pathogenic |
Disease | Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55593613_55593614delTTinsAA |
CLNSRC | |
CLNACC | RCV000422073.1, |