rs397509384
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397509384(A;A) |
Make rs397509384(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 68280983 |
Gene | PIK3R1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509384 |
dbSNP (classic) | rs397509384 |
ClinGen | rs397509384 |
ebi | rs397509384 |
HLI | rs397509384 |
Exac | rs397509384 |
Gnomad | rs397509384 |
Varsome | rs397509384 |
LitVar | rs397509384 |
Map | rs397509384 |
PheGenI | rs397509384 |
Biobank | rs397509384 |
1000 genomes | rs397509384 |
hgdp | rs397509384 |
ensembl | rs397509384 |
geneview | rs397509384 |
scholar | rs397509384 |
rs397509384 | |
pharmgkb | rs397509384 |
gwascentral | rs397509384 |
openSNP | rs397509384 |
23andMe | rs397509384 |
SNPshot | rs397509384 |
SNPdbe | rs397509384 |
MSV3d | rs397509384 |
GWAS Ctlg | rs397509384 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509384(A;A) |
Alt | rs397509384(A;A) |
Reference | Rs397509384(G;G) |
Significance | Pathogenic |
Disease | Agammaglobulinemia 7 |
Variation | info |
Gene | PIK3R1 |
CLNDBN | Agammaglobulinemia 7, autosomal recessive |
Reversed | 0 |
HGVS | NC_000005.9:g.67576811G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000041966.27, |