rs9913583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs9913583(A;A) |
Make rs9913583(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 1762036 |
Gene | SERPINF1 |
is a | snp |
is | mentioned by |
dbSNP | rs9913583 |
dbSNP (classic) | rs9913583 |
ClinGen | rs9913583 |
ebi | rs9913583 |
HLI | rs9913583 |
Exac | rs9913583 |
Gnomad | rs9913583 |
Varsome | rs9913583 |
LitVar | rs9913583 |
Map | rs9913583 |
PheGenI | rs9913583 |
Biobank | rs9913583 |
1000 genomes | rs9913583 |
hgdp | rs9913583 |
ensembl | rs9913583 |
geneview | rs9913583 |
scholar | rs9913583 |
rs9913583 | |
pharmgkb | rs9913583 |
gwascentral | rs9913583 |
openSNP | rs9913583 |
23andMe | rs9913583 |
SNPshot | rs9913583 |
SNPdbe | rs9913583 |
MSV3d | rs9913583 |
GWAS Ctlg | rs9913583 |
GMAF | 0.1001 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 17658465] Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy.
ClinVar | |
---|---|
Risk | rs9913583(A;A) |
Alt | rs9913583(A;A) |
Reference | Rs9913583(C;C) |
Significance | Probable-non-pathogenic |
Disease | Osteogenesis Imperfecta |
Variation | info |
Gene | SERPINF1 |
CLNDBN | Osteogenesis Imperfecta, Recessive |
Reversed | 0 |
HGVS | NC_000017.10:g.1665330C>A |
CLNSRC | |
CLNACC | RCV000365793.1, |