rs886041403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAAAG;AAAAG) | 0 | common in clinvar |
Chromosome | 15 |
Position | 39953950 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs886041403 |
dbSNP (classic) | rs886041403 |
ClinGen | rs886041403 |
ebi | rs886041403 |
HLI | rs886041403 |
Exac | rs886041403 |
Gnomad | rs886041403 |
Varsome | rs886041403 |
LitVar | rs886041403 |
Map | rs886041403 |
PheGenI | rs886041403 |
Biobank | rs886041403 |
1000 genomes | rs886041403 |
hgdp | rs886041403 |
ensembl | rs886041403 |
geneview | rs886041403 |
scholar | rs886041403 |
rs886041403 | |
pharmgkb | rs886041403 |
gwascentral | rs886041403 |
openSNP | rs886041403 |
23andMe | rs886041403 |
SNPshot | rs886041403 |
SNPdbe | rs886041403 |
MSV3d | rs886041403 |
GWAS Ctlg | rs886041403 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041403(-;-) |
Alt | rs886041403(-;-) |
Reference | Rs886041403(AAAAG;AAAAG) |
Significance | Pathogenic |
Disease | not provided Familial pulmonary capillary hemangiomatosis |
Variation | info |
Gene | EIF2AK4 |
CLNDBN | not provided Familial pulmonary capillary hemangiomatosis |
Reversed | 0 |
HGVS | NC_000015.9:g.40246151_40246155delAAGAA |
CLNSRC | |
CLNACC | RCV000319705.1, RCV000488528.1, |