rs376877634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376877634(C;T) |
Make rs376877634(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 39972904 |
Gene | EIF2AK4 |
is a | snp |
is | mentioned by |
dbSNP | rs376877634 |
dbSNP (classic) | rs376877634 |
ClinGen | rs376877634 |
ebi | rs376877634 |
HLI | rs376877634 |
Exac | rs376877634 |
Gnomad | rs376877634 |
Varsome | rs376877634 |
LitVar | rs376877634 |
Map | rs376877634 |
PheGenI | rs376877634 |
Biobank | rs376877634 |
1000 genomes | rs376877634 |
hgdp | rs376877634 |
ensembl | rs376877634 |
geneview | rs376877634 |
scholar | rs376877634 |
rs376877634 | |
pharmgkb | rs376877634 |
gwascentral | rs376877634 |
openSNP | rs376877634 |
23andMe | rs376877634 |
SNPshot | rs376877634 |
SNPdbe | rs376877634 |
MSV3d | rs376877634 |
GWAS Ctlg | rs376877634 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376877634(A;A) rs376877634(T;T) |
Alt | rs376877634(A;A) rs376877634(T;T) |
Reference | Rs376877634(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.40265105C>A |
CLNSRC | |
CLNACC | RCV000488704.1, |