rs754714105
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754714105(C;T) |
Make rs754714105(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 2326201 |
Gene | ABCA3 |
is a | snp |
is | mentioned by |
dbSNP | rs754714105 |
dbSNP (classic) | rs754714105 |
ClinGen | rs754714105 |
ebi | rs754714105 |
HLI | rs754714105 |
Exac | rs754714105 |
Gnomad | rs754714105 |
Varsome | rs754714105 |
LitVar | rs754714105 |
Map | rs754714105 |
PheGenI | rs754714105 |
Biobank | rs754714105 |
1000 genomes | rs754714105 |
hgdp | rs754714105 |
ensembl | rs754714105 |
geneview | rs754714105 |
scholar | rs754714105 |
rs754714105 | |
pharmgkb | rs754714105 |
gwascentral | rs754714105 |
openSNP | rs754714105 |
23andMe | rs754714105 |
SNPshot | rs754714105 |
SNPdbe | rs754714105 |
MSV3d | rs754714105 |
GWAS Ctlg | rs754714105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754714105(T;T) |
Alt | rs754714105(T;T) |
Reference | Rs754714105(C;C) |
Significance | Pathogenic |
Disease | Pulmonary Surfactant Metabolism Dysfunction |
Variation | info |
Gene | ABCA3 |
CLNDBN | Pulmonary Surfactant Metabolism Dysfunction |
Reversed | 0 |
HGVS | NC_000016.9:g.2376202C>T |
CLNSRC | |
CLNACC | RCV000221771.1, |