rs1060502521
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060502521(-;-) |
Make rs1060502521(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54733162 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs1060502521 |
dbSNP (classic) | rs1060502521 |
ClinGen | rs1060502521 |
ebi | rs1060502521 |
HLI | rs1060502521 |
Exac | rs1060502521 |
Gnomad | rs1060502521 |
Varsome | rs1060502521 |
LitVar | rs1060502521 |
Map | rs1060502521 |
PheGenI | rs1060502521 |
Biobank | rs1060502521 |
1000 genomes | rs1060502521 |
hgdp | rs1060502521 |
ensembl | rs1060502521 |
geneview | rs1060502521 |
scholar | rs1060502521 |
rs1060502521 | |
pharmgkb | rs1060502521 |
gwascentral | rs1060502521 |
openSNP | rs1060502521 |
23andMe | rs1060502521 |
SNPshot | rs1060502521 |
SNPdbe | rs1060502521 |
MSV3d | rs1060502521 |
GWAS Ctlg | rs1060502521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502521(-;-) |
Alt | rs1060502521(-;-) |
Reference | Rs1060502521(G;G) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55599328delG |
CLNSRC | |
CLNACC | RCV000470229.1, |