rs863225060
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863225060(C;T) |
Make rs863225060(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 179199136 |
Gene | PIK3CA |
is a | snp |
is | mentioned by |
dbSNP | rs863225060 |
dbSNP (classic) | rs863225060 |
ClinGen | rs863225060 |
ebi | rs863225060 |
HLI | rs863225060 |
Exac | rs863225060 |
Gnomad | rs863225060 |
Varsome | rs863225060 |
LitVar | rs863225060 |
Map | rs863225060 |
PheGenI | rs863225060 |
Biobank | rs863225060 |
1000 genomes | rs863225060 |
hgdp | rs863225060 |
ensembl | rs863225060 |
geneview | rs863225060 |
scholar | rs863225060 |
rs863225060 | |
pharmgkb | rs863225060 |
gwascentral | rs863225060 |
openSNP | rs863225060 |
23andMe | rs863225060 |
SNPshot | rs863225060 |
SNPdbe | rs863225060 |
MSV3d | rs863225060 |
GWAS Ctlg | rs863225060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225060(T;T) |
Alt | rs863225060(T;T) |
Reference | Rs863225060(C;C) |
Significance | Probable-Pathogenic |
Disease | PIK3CA related overgrowth spectrum |
Variation | info |
Gene | PIK3CA |
CLNDBN | PIK3CA related overgrowth spectrum |
Reversed | 0 |
HGVS | NC_000003.11:g.178916924C>T |
CLNSRC | |
CLNACC | RCV000201238.1, |