rs515726151
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs515726151(G;G) |
Make rs515726151(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 68296327 |
Gene | PIK3R1 |
is a | snp |
is | mentioned by |
dbSNP | rs515726151 |
dbSNP (classic) | rs515726151 |
ClinGen | rs515726151 |
ebi | rs515726151 |
HLI | rs515726151 |
Exac | rs515726151 |
Gnomad | rs515726151 |
Varsome | rs515726151 |
LitVar | rs515726151 |
Map | rs515726151 |
PheGenI | rs515726151 |
Biobank | rs515726151 |
1000 genomes | rs515726151 |
hgdp | rs515726151 |
ensembl | rs515726151 |
geneview | rs515726151 |
scholar | rs515726151 |
rs515726151 | |
pharmgkb | rs515726151 |
gwascentral | rs515726151 |
openSNP | rs515726151 |
23andMe | rs515726151 |
SNPshot | rs515726151 |
SNPdbe | rs515726151 |
MSV3d | rs515726151 |
GWAS Ctlg | rs515726151 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726151(G;G) |
Alt | rs515726151(G;G) |
Reference | Rs515726151(T;T) |
Significance | Pathogenic |
Disease | SHORT syndrome |
Variation | info |
Gene | PIK3R1 |
CLNDBN | SHORT syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.67592155T>G |
CLNSRC | |
CLNACC | RCV000202477.1, |