rs1085307442
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 15 |
Position | 40001224 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307442 |
dbSNP (classic) | rs1085307442 |
ClinGen | rs1085307442 |
ebi | rs1085307442 |
HLI | rs1085307442 |
Exac | rs1085307442 |
Gnomad | rs1085307442 |
Varsome | rs1085307442 |
LitVar | rs1085307442 |
Map | rs1085307442 |
PheGenI | rs1085307442 |
Biobank | rs1085307442 |
1000 genomes | rs1085307442 |
hgdp | rs1085307442 |
ensembl | rs1085307442 |
geneview | rs1085307442 |
scholar | rs1085307442 |
rs1085307442 | |
pharmgkb | rs1085307442 |
gwascentral | rs1085307442 |
openSNP | rs1085307442 |
23andMe | rs1085307442 |
SNPshot | rs1085307442 |
SNPdbe | rs1085307442 |
MSV3d | rs1085307442 |
GWAS Ctlg | rs1085307442 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307442(A;A) |
Alt | rs1085307442(A;A) |
Reference | Rs1085307442(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.40293425G>A |
CLNSRC | |
CLNACC | RCV000488748.1, |