rs121908588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908588(G;T) |
Make rs121908588(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 54285937 |
Gene | PDGFRA |
is a | snp |
is | mentioned by |
dbSNP | rs121908588 |
dbSNP (classic) | rs121908588 |
ClinGen | rs121908588 |
ebi | rs121908588 |
HLI | rs121908588 |
Exac | rs121908588 |
Gnomad | rs121908588 |
Varsome | rs121908588 |
LitVar | rs121908588 |
Map | rs121908588 |
PheGenI | rs121908588 |
Biobank | rs121908588 |
1000 genomes | rs121908588 |
hgdp | rs121908588 |
ensembl | rs121908588 |
geneview | rs121908588 |
scholar | rs121908588 |
rs121908588 | |
pharmgkb | rs121908588 |
gwascentral | rs121908588 |
openSNP | rs121908588 |
23andMe | rs121908588 |
SNPshot | rs121908588 |
SNPdbe | rs121908588 |
MSV3d | rs121908588 |
GWAS Ctlg | rs121908588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908588(T;T) |
Alt | rs121908588(T;T) |
Reference | Rs121908588(G;G) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Gastrointestinal stromal tumor |
Variation | info |
Gene | PDGFRA |
CLNDBN | Gastrointestinal stromal tumor, familial Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55152104G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014510.25, RCV000442350.1, |