rs200375589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200375589(A;A) |
Make rs200375589(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 54727442 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs200375589 |
dbSNP (classic) | rs200375589 |
ClinGen | rs200375589 |
ebi | rs200375589 |
HLI | rs200375589 |
Exac | rs200375589 |
Gnomad | rs200375589 |
Varsome | rs200375589 |
LitVar | rs200375589 |
Map | rs200375589 |
PheGenI | rs200375589 |
Biobank | rs200375589 |
1000 genomes | rs200375589 |
hgdp | rs200375589 |
ensembl | rs200375589 |
geneview | rs200375589 |
scholar | rs200375589 |
rs200375589 | |
pharmgkb | rs200375589 |
gwascentral | rs200375589 |
openSNP | rs200375589 |
23andMe | rs200375589 |
SNPshot | rs200375589 |
SNPdbe | rs200375589 |
MSV3d | rs200375589 |
GWAS Ctlg | rs200375589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200375589(A;A) rs200375589(C;C) rs200375589(T;T) |
Alt | rs200375589(A;A) rs200375589(C;C) rs200375589(T;T) |
Reference | Rs200375589(G;G) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Malignant melanoma |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor Malignant melanoma |
Reversed | 0 |
HGVS | NC_000004.11:g.55593608G>A; NC_000004.11:g.55593608G>C; NC_000004.11:g.55593608G>T |
CLNSRC | |
CLNACC | RCV000205733.3, RCV000443034.1, RCV000426003.1, RCV000436617.1, |