rs759101551
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759101551(C;G) |
Make rs759101551(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 39997054 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs759101551 |
dbSNP (classic) | rs759101551 |
ClinGen | rs759101551 |
ebi | rs759101551 |
HLI | rs759101551 |
Exac | rs759101551 |
Gnomad | rs759101551 |
Varsome | rs759101551 |
LitVar | rs759101551 |
Map | rs759101551 |
PheGenI | rs759101551 |
Biobank | rs759101551 |
1000 genomes | rs759101551 |
hgdp | rs759101551 |
ensembl | rs759101551 |
geneview | rs759101551 |
scholar | rs759101551 |
rs759101551 | |
pharmgkb | rs759101551 |
gwascentral | rs759101551 |
openSNP | rs759101551 |
23andMe | rs759101551 |
SNPshot | rs759101551 |
SNPdbe | rs759101551 |
MSV3d | rs759101551 |
GWAS Ctlg | rs759101551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759101551(G;G) rs759101551(T;T) |
Alt | rs759101551(G;G) rs759101551(T;T) |
Reference | Rs759101551(C;C) |
Significance | Pathogenic |
Disease | Familial pulmonary capillary hemangiomatosis |
Variation | info |
Gene | EIF2AK4 |
CLNDBN | Familial pulmonary capillary hemangiomatosis |
Reversed | 0 |
HGVS | NC_000015.9:g.40289255C>T |
CLNSRC | |
CLNACC | RCV000488559.1, |