rs67394386
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67394386(A;A) |
Make rs67394386(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 50188131 |
Gene | COL1A1 |
is a | snp |
is | mentioned by |
dbSNP | rs67394386 |
dbSNP (classic) | rs67394386 |
ClinGen | rs67394386 |
ebi | rs67394386 |
HLI | rs67394386 |
Exac | rs67394386 |
Gnomad | rs67394386 |
Varsome | rs67394386 |
LitVar | rs67394386 |
Map | rs67394386 |
PheGenI | rs67394386 |
Biobank | rs67394386 |
1000 genomes | rs67394386 |
hgdp | rs67394386 |
ensembl | rs67394386 |
geneview | rs67394386 |
scholar | rs67394386 |
rs67394386 | |
pharmgkb | rs67394386 |
gwascentral | rs67394386 |
openSNP | rs67394386 |
23andMe | rs67394386 |
SNPshot | rs67394386 |
SNPdbe | rs67394386 |
MSV3d | rs67394386 |
GWAS Ctlg | rs67394386 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67394386(A;A) rs67394386(T;T) |
Alt | rs67394386(A;A) rs67394386(T;T) |
Reference | Rs67394386(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta type III |
Variation | info |
Gene | COL1A1 |
CLNDBN | Osteogenesis imperfecta type III |
Reversed | 1 |
HGVS | NC_000017.10:g.48265492C>T |
CLNSRC | |
CLNACC | RCV000490696.1, |