rs587777390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777390(C;C) |
Make rs587777390(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 9719924 |
Gene | PIK3CD |
is a | snp |
is | mentioned by |
dbSNP | rs587777390 |
dbSNP (classic) | rs587777390 |
ClinGen | rs587777390 |
ebi | rs587777390 |
HLI | rs587777390 |
Exac | rs587777390 |
Gnomad | rs587777390 |
Varsome | rs587777390 |
LitVar | rs587777390 |
Map | rs587777390 |
PheGenI | rs587777390 |
Biobank | rs587777390 |
1000 genomes | rs587777390 |
hgdp | rs587777390 |
ensembl | rs587777390 |
geneview | rs587777390 |
scholar | rs587777390 |
rs587777390 | |
pharmgkb | rs587777390 |
gwascentral | rs587777390 |
openSNP | rs587777390 |
23andMe | rs587777390 |
SNPshot | rs587777390 |
SNPdbe | rs587777390 |
MSV3d | rs587777390 |
GWAS Ctlg | rs587777390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777390(C;C) |
Alt | rs587777390(C;C) |
Reference | Rs587777390(T;T) |
Significance | Pathogenic |
Disease | Immunodeficiency 14 |
Variation | info |
Gene | PIK3CD |
CLNDBN | Immunodeficiency 14 |
Reversed | 0 |
HGVS | NC_000001.10:g.9779982T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119277.3, |