rs757852728
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs757852728(G;G) |
Make rs757852728(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 39976523 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs757852728 |
dbSNP (classic) | rs757852728 |
ClinGen | rs757852728 |
ebi | rs757852728 |
HLI | rs757852728 |
Exac | rs757852728 |
Gnomad | rs757852728 |
Varsome | rs757852728 |
LitVar | rs757852728 |
Map | rs757852728 |
PheGenI | rs757852728 |
Biobank | rs757852728 |
1000 genomes | rs757852728 |
hgdp | rs757852728 |
ensembl | rs757852728 |
geneview | rs757852728 |
scholar | rs757852728 |
rs757852728 | |
pharmgkb | rs757852728 |
gwascentral | rs757852728 |
openSNP | rs757852728 |
23andMe | rs757852728 |
SNPshot | rs757852728 |
SNPdbe | rs757852728 |
MSV3d | rs757852728 |
GWAS Ctlg | rs757852728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757852728(G;G) |
Alt | rs757852728(G;G) |
Reference | Rs757852728(T;T) |
Significance | Pathogenic |
Disease | Familial pulmonary capillary hemangiomatosis |
Variation | info |
Gene | EIF2AK4 |
CLNDBN | Familial pulmonary capillary hemangiomatosis |
Reversed | 0 |
HGVS | NC_000015.9:g.40268724T>G |
CLNSRC | |
CLNACC | RCV000488861.1, |