rs1057519710
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519710(C;C) |
Make rs1057519710(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54733166 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs1057519710 |
dbSNP (classic) | rs1057519710 |
ClinGen | rs1057519710 |
ebi | rs1057519710 |
HLI | rs1057519710 |
Exac | rs1057519710 |
Gnomad | rs1057519710 |
Varsome | rs1057519710 |
LitVar | rs1057519710 |
Map | rs1057519710 |
PheGenI | rs1057519710 |
Biobank | rs1057519710 |
1000 genomes | rs1057519710 |
hgdp | rs1057519710 |
ensembl | rs1057519710 |
geneview | rs1057519710 |
scholar | rs1057519710 |
rs1057519710 | |
pharmgkb | rs1057519710 |
gwascentral | rs1057519710 |
openSNP | rs1057519710 |
23andMe | rs1057519710 |
SNPshot | rs1057519710 |
SNPdbe | rs1057519710 |
MSV3d | rs1057519710 |
GWAS Ctlg | rs1057519710 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519710(C;C) rs1057519710(T;T) |
Alt | rs1057519710(C;C) rs1057519710(T;T) |
Reference | Rs1057519710(G;G) |
Significance | Pathogenic |
Disease | Malignant melanoma |
Variation | info |
Gene | KIT |
CLNDBN | Malignant melanoma |
Reversed | 0 |
HGVS | NC_000004.11:g.55599332G>C; NC_000004.11:g.55599332G>T |
CLNSRC | |
CLNACC | RCV000427793.1, RCV000437969.1, |