rs121913506
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913506(C;C) |
Make rs121913506(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 54733154 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913506 |
dbSNP (classic) | rs121913506 |
ClinGen | rs121913506 |
ebi | rs121913506 |
HLI | rs121913506 |
Exac | rs121913506 |
Gnomad | rs121913506 |
Varsome | rs121913506 |
LitVar | rs121913506 |
Map | rs121913506 |
PheGenI | rs121913506 |
Biobank | rs121913506 |
1000 genomes | rs121913506 |
hgdp | rs121913506 |
ensembl | rs121913506 |
geneview | rs121913506 |
scholar | rs121913506 |
rs121913506 | |
pharmgkb | rs121913506 |
gwascentral | rs121913506 |
openSNP | rs121913506 |
23andMe | rs121913506 |
SNPshot | rs121913506 |
SNPdbe | rs121913506 |
MSV3d | rs121913506 |
GWAS Ctlg | rs121913506 |
Merged from | Rs28933969 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913506(C;C) rs121913506(T;T) |
Alt | rs121913506(C;C) rs121913506(T;T) |
Reference | Rs121913506(G;G) |
Significance | Pathogenic |
Disease | Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55599320G>C; NC_000004.11:g.55599320G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014877.4, RCV000379347.1, RCV000418294.1, RCV000428990.1, RCV000439677.1, RCV000014874.26, RCV000422151.1, RCV000422812.1, RCV000429574.1, |