rs121913514
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913514(A;A) |
Make rs121913514(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54733174 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913514 |
dbSNP (classic) | rs121913514 |
ClinGen | rs121913514 |
ebi | rs121913514 |
HLI | rs121913514 |
Exac | rs121913514 |
Gnomad | rs121913514 |
Varsome | rs121913514 |
LitVar | rs121913514 |
Map | rs121913514 |
PheGenI | rs121913514 |
Biobank | rs121913514 |
1000 genomes | rs121913514 |
hgdp | rs121913514 |
ensembl | rs121913514 |
geneview | rs121913514 |
scholar | rs121913514 |
rs121913514 | |
pharmgkb | rs121913514 |
gwascentral | rs121913514 |
openSNP | rs121913514 |
23andMe | rs121913514 |
SNPshot | rs121913514 |
SNPdbe | rs121913514 |
MSV3d | rs121913514 |
GWAS Ctlg | rs121913514 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913514(A;A) rs121913514(G;G) |
Alt | rs121913514(A;A) rs121913514(G;G) |
Reference | Rs121913514(T;T) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Acute myeloid leukemia Malignant melanoma |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor Acute myeloid leukemia Malignant melanoma |
Reversed | 0 |
HGVS | NC_000004.11:g.55599340T>A; NC_000004.11:g.55599340T>G |
CLNSRC | |
CLNACC | RCV000419670.1, RCV000429954.1, RCV000436687.1, RCV000419001.1, RCV000429190.1, RCV000439434.1, |