rs121913523
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913523(C;C) |
Make rs121913523(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54728092 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913523 |
dbSNP (classic) | rs121913523 |
ClinGen | rs121913523 |
ebi | rs121913523 |
HLI | rs121913523 |
Exac | rs121913523 |
Gnomad | rs121913523 |
Varsome | rs121913523 |
LitVar | rs121913523 |
Map | rs121913523 |
PheGenI | rs121913523 |
Biobank | rs121913523 |
1000 genomes | rs121913523 |
hgdp | rs121913523 |
ensembl | rs121913523 |
geneview | rs121913523 |
scholar | rs121913523 |
rs121913523 | |
pharmgkb | rs121913523 |
gwascentral | rs121913523 |
openSNP | rs121913523 |
23andMe | rs121913523 |
SNPshot | rs121913523 |
SNPdbe | rs121913523 |
MSV3d | rs121913523 |
GWAS Ctlg | rs121913523 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913523(A;A) rs121913523(C;C) |
Alt | rs121913523(A;A) rs121913523(C;C) |
Reference | Rs121913523(T;T) |
Significance | Pathogenic |
Disease | Malignant melanoma Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Malignant melanoma Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55594258T>A; NC_000004.11:g.55594258T>C |
CLNSRC | |
CLNACC | RCV000439135.1, RCV000427620.1, RCV000442533.1, |