rs756902589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs756902589(G;T) |
Make rs756902589(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 40008196 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs756902589 |
dbSNP (classic) | rs756902589 |
ClinGen | rs756902589 |
ebi | rs756902589 |
HLI | rs756902589 |
Exac | rs756902589 |
Gnomad | rs756902589 |
Varsome | rs756902589 |
LitVar | rs756902589 |
Map | rs756902589 |
PheGenI | rs756902589 |
Biobank | rs756902589 |
1000 genomes | rs756902589 |
hgdp | rs756902589 |
ensembl | rs756902589 |
geneview | rs756902589 |
scholar | rs756902589 |
rs756902589 | |
pharmgkb | rs756902589 |
gwascentral | rs756902589 |
openSNP | rs756902589 |
23andMe | rs756902589 |
SNPshot | rs756902589 |
SNPdbe | rs756902589 |
MSV3d | rs756902589 |
GWAS Ctlg | rs756902589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756902589(T;T) |
Alt | rs756902589(T;T) |
Reference | Rs756902589(G;G) |
Significance | Pathogenic |
Disease | Familial pulmonary capillary hemangiomatosis |
Variation | info |
Gene | EIF2AK4 |
CLNDBN | Familial pulmonary capillary hemangiomatosis |
Reversed | 0 |
HGVS | NC_000015.9:g.40300397G>T |
CLNSRC | |
CLNACC | RCV000488503.1, |