rs398122835
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122835(-;-) |
Make rs398122835(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50185779 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122835 |
dbSNP (classic) | rs398122835 |
ClinGen | rs398122835 |
ebi | rs398122835 |
HLI | rs398122835 |
Exac | rs398122835 |
Gnomad | rs398122835 |
Varsome | rs398122835 |
LitVar | rs398122835 |
Map | rs398122835 |
PheGenI | rs398122835 |
Biobank | rs398122835 |
1000 genomes | rs398122835 |
hgdp | rs398122835 |
ensembl | rs398122835 |
geneview | rs398122835 |
scholar | rs398122835 |
rs398122835 | |
pharmgkb | rs398122835 |
gwascentral | rs398122835 |
openSNP | rs398122835 |
23andMe | rs398122835 |
SNPshot | rs398122835 |
SNPdbe | rs398122835 |
MSV3d | rs398122835 |
GWAS Ctlg | rs398122835 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122835(-;-) |
Alt | rs398122835(-;-) |
Reference | Rs398122835(C;C) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | COL1A1 |
CLNDBN | Osteogenesis imperfecta, recessive perinatal lethal |
Reversed | 1 |
HGVS | NC_000017.10:g.48263140delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034354.29, |