rs121913516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913516(C;T) |
Make rs121913516(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54729353 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913516 |
dbSNP (classic) | rs121913516 |
ClinGen | rs121913516 |
ebi | rs121913516 |
HLI | rs121913516 |
Exac | rs121913516 |
Gnomad | rs121913516 |
Varsome | rs121913516 |
LitVar | rs121913516 |
Map | rs121913516 |
PheGenI | rs121913516 |
Biobank | rs121913516 |
1000 genomes | rs121913516 |
hgdp | rs121913516 |
ensembl | rs121913516 |
geneview | rs121913516 |
scholar | rs121913516 |
rs121913516 | |
pharmgkb | rs121913516 |
gwascentral | rs121913516 |
openSNP | rs121913516 |
23andMe | rs121913516 |
SNPshot | rs121913516 |
SNPdbe | rs121913516 |
MSV3d | rs121913516 |
GWAS Ctlg | rs121913516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913516(T;T) |
Alt | rs121913516(T;T) |
Reference | Rs121913516(C;C) |
Significance | Probable-Pathogenic |
Disease | Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55595519C>T |
CLNSRC | |
CLNACC | RCV000421498.1, |