rs121913685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTT;GTT) | 0 | common in clinvar |
Make rs121913685(-;-) |
Make rs121913685(-;GTT) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 54727443 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs121913685 |
dbSNP (classic) | rs121913685 |
ClinGen | rs121913685 |
ebi | rs121913685 |
HLI | rs121913685 |
Exac | rs121913685 |
Gnomad | rs121913685 |
Varsome | rs121913685 |
LitVar | rs121913685 |
Map | rs121913685 |
PheGenI | rs121913685 |
Biobank | rs121913685 |
1000 genomes | rs121913685 |
hgdp | rs121913685 |
ensembl | rs121913685 |
geneview | rs121913685 |
scholar | rs121913685 |
rs121913685 | |
pharmgkb | rs121913685 |
gwascentral | rs121913685 |
openSNP | rs121913685 |
23andMe | rs121913685 |
SNPshot | rs121913685 |
SNPdbe | rs121913685 |
MSV3d | rs121913685 |
GWAS Ctlg | rs121913685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913685(-;-) |
Alt | rs121913685(-;-) |
Reference | Rs121913685(GTT;GTT) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Malignant melanoma |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor, familial Malignant melanoma |
Reversed | 0 |
HGVS | NC_000004.11:g.55593609_55593611delGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014873.25, RCV000432801.1, |