rs1057519703
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519703(A;C) |
Make rs1057519703(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54727418 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs1057519703 |
dbSNP (classic) | rs1057519703 |
ClinGen | rs1057519703 |
ebi | rs1057519703 |
HLI | rs1057519703 |
Exac | rs1057519703 |
Gnomad | rs1057519703 |
Varsome | rs1057519703 |
LitVar | rs1057519703 |
Map | rs1057519703 |
PheGenI | rs1057519703 |
Biobank | rs1057519703 |
1000 genomes | rs1057519703 |
hgdp | rs1057519703 |
ensembl | rs1057519703 |
geneview | rs1057519703 |
scholar | rs1057519703 |
rs1057519703 | |
pharmgkb | rs1057519703 |
gwascentral | rs1057519703 |
openSNP | rs1057519703 |
23andMe | rs1057519703 |
SNPshot | rs1057519703 |
SNPdbe | rs1057519703 |
MSV3d | rs1057519703 |
GWAS Ctlg | rs1057519703 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519703(C;C) rs1057519703(T;T) |
Alt | rs1057519703(C;C) rs1057519703(T;T) |
Reference | Rs1057519703(A;A) |
Significance | Pathogenic |
Disease | Malignant melanoma |
Variation | info |
Gene | KIT |
CLNDBN | Malignant melanoma |
Reversed | 0 |
HGVS | NC_000004.11:g.55593584A>C; NC_000004.11:g.55593584A>T |
CLNSRC | |
CLNACC | RCV000441099.1, RCV000423846.1, |