rs121913507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913507(A;T) |
Make rs121913507(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 54733155 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913507 |
dbSNP (classic) | rs121913507 |
ClinGen | rs121913507 |
ebi | rs121913507 |
HLI | rs121913507 |
Exac | rs121913507 |
Gnomad | rs121913507 |
Varsome | rs121913507 |
LitVar | rs121913507 |
Map | rs121913507 |
PheGenI | rs121913507 |
Biobank | rs121913507 |
1000 genomes | rs121913507 |
hgdp | rs121913507 |
ensembl | rs121913507 |
geneview | rs121913507 |
scholar | rs121913507 |
rs121913507 | |
pharmgkb | rs121913507 |
gwascentral | rs121913507 |
openSNP | rs121913507 |
23andMe | rs121913507 |
SNPshot | rs121913507 |
SNPdbe | rs121913507 |
MSV3d | rs121913507 |
GWAS Ctlg | rs121913507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913507(T;T) |
Alt | rs121913507(T;T) |
Reference | Rs121913507(A;A) |
Significance | Other |
Disease | Mast cell leukemia Mastocytosis with associated hematologic disorder Mastocytosis Gastrointestinal stromal tumor Hematologic neoplasm Acute myeloid leukemia |
Variation | info |
Gene | KIT |
CLNDBN | Mast cell leukemia Mastocytosis with associated hematologic disorder Mastocytosis, adult sporadic Gastrointestinal stromal tumor Hematologic neoplasm Acute myeloid leukemia |
Reversed | 0 |
HGVS | NC_000004.11:g.55599321A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014864.22, RCV000014865.25, RCV000014866.21, RCV000431704.1, RCV000443179.1, RCV000444150.1, |