rs587777709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777709(G;T) |
Make rs587777709(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 68293835 |
Gene | PIK3R1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777709 |
dbSNP (classic) | rs587777709 |
ClinGen | rs587777709 |
ebi | rs587777709 |
HLI | rs587777709 |
Exac | rs587777709 |
Gnomad | rs587777709 |
Varsome | rs587777709 |
LitVar | rs587777709 |
Map | rs587777709 |
PheGenI | rs587777709 |
Biobank | rs587777709 |
1000 genomes | rs587777709 |
hgdp | rs587777709 |
ensembl | rs587777709 |
geneview | rs587777709 |
scholar | rs587777709 |
rs587777709 | |
pharmgkb | rs587777709 |
gwascentral | rs587777709 |
openSNP | rs587777709 |
23andMe | rs587777709 |
SNPshot | rs587777709 |
SNPdbe | rs587777709 |
MSV3d | rs587777709 |
GWAS Ctlg | rs587777709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777709(A;A) rs587777709(C;C) rs587777709(T;T) |
Alt | rs587777709(A;A) rs587777709(C;C) rs587777709(T;T) |
Reference | Rs587777709(G;G) |
Significance | Pathogenic |
Disease | not provided Immunodeficiency 36 |
Variation | info |
Gene | PIK3R1 |
CLNDBN | not provided Immunodeficiency 36 |
Reversed | 0 |
HGVS | NC_000005.9:g.67589663G>A; NC_000005.9:g.67589663G>C; NC_000005.9:g.67589663G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000413301.1, RCV000144066.4, RCV000144065.4, RCV000349198.1, |