rs67609234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67609234(A;A) |
Make rs67609234(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 94425832 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs67609234 |
dbSNP (classic) | rs67609234 |
ClinGen | rs67609234 |
ebi | rs67609234 |
HLI | rs67609234 |
Exac | rs67609234 |
Gnomad | rs67609234 |
Varsome | rs67609234 |
LitVar | rs67609234 |
Map | rs67609234 |
PheGenI | rs67609234 |
Biobank | rs67609234 |
1000 genomes | rs67609234 |
hgdp | rs67609234 |
ensembl | rs67609234 |
geneview | rs67609234 |
scholar | rs67609234 |
rs67609234 | |
pharmgkb | rs67609234 |
gwascentral | rs67609234 |
openSNP | rs67609234 |
23andMe | rs67609234 |
SNPshot | rs67609234 |
SNPdbe | rs67609234 |
MSV3d | rs67609234 |
GWAS Ctlg | rs67609234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67609234(A;A) rs67609234(T;T) |
Alt | rs67609234(A;A) rs67609234(T;T) |
Reference | Rs67609234(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta type III |
Variation | info |
Gene | COL1A2 |
CLNDBN | Osteogenesis imperfecta type III |
Reversed | 0 |
HGVS | NC_000007.13:g.94055144G>T |
CLNSRC | |
CLNACC | RCV000490699.1, |