rs774906916
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs774906916(C;T) |
Make rs774906916(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 40003301 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs774906916 |
dbSNP (classic) | rs774906916 |
ClinGen | rs774906916 |
ebi | rs774906916 |
HLI | rs774906916 |
Exac | rs774906916 |
Gnomad | rs774906916 |
Varsome | rs774906916 |
LitVar | rs774906916 |
Map | rs774906916 |
PheGenI | rs774906916 |
Biobank | rs774906916 |
1000 genomes | rs774906916 |
hgdp | rs774906916 |
ensembl | rs774906916 |
geneview | rs774906916 |
scholar | rs774906916 |
rs774906916 | |
pharmgkb | rs774906916 |
gwascentral | rs774906916 |
openSNP | rs774906916 |
23andMe | rs774906916 |
SNPshot | rs774906916 |
SNPdbe | rs774906916 |
MSV3d | rs774906916 |
GWAS Ctlg | rs774906916 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774906916(T;T) |
Alt | rs774906916(T;T) |
Reference | Rs774906916(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.40295502C>T |
CLNSRC | |
CLNACC | RCV000488662.1, |