rs397514565
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514565(A;A) |
Make rs397514565(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 179204576 |
Gene | PIK3CA |
is a | snp |
is | mentioned by |
dbSNP | rs397514565 |
dbSNP (classic) | rs397514565 |
ClinGen | rs397514565 |
ebi | rs397514565 |
HLI | rs397514565 |
Exac | rs397514565 |
Gnomad | rs397514565 |
Varsome | rs397514565 |
LitVar | rs397514565 |
Map | rs397514565 |
PheGenI | rs397514565 |
Biobank | rs397514565 |
1000 genomes | rs397514565 |
hgdp | rs397514565 |
ensembl | rs397514565 |
geneview | rs397514565 |
scholar | rs397514565 |
rs397514565 | |
pharmgkb | rs397514565 |
gwascentral | rs397514565 |
openSNP | rs397514565 |
23andMe | rs397514565 |
SNPshot | rs397514565 |
SNPdbe | rs397514565 |
MSV3d | rs397514565 |
GWAS Ctlg | rs397514565 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514565(A;A) |
Alt | rs397514565(A;A) |
Reference | Rs397514565(G;G) |
Significance | Pathogenic |
Disease | Megalencephaly cutis marmorata telangiectatica congenita PIK3CA related overgrowth spectrum |
Variation | info |
Gene | PIK3CA |
CLNDBN | Megalencephaly cutis marmorata telangiectatica congenita PIK3CA related overgrowth spectrum |
Reversed | 0 |
HGVS | NC_000003.11:g.178922364G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032908.5, RCV000201233.1, |