rs67707918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67707918(A;A) |
Make rs67707918(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 94410501 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs67707918 |
dbSNP (classic) | rs67707918 |
ClinGen | rs67707918 |
ebi | rs67707918 |
HLI | rs67707918 |
Exac | rs67707918 |
Gnomad | rs67707918 |
Varsome | rs67707918 |
LitVar | rs67707918 |
Map | rs67707918 |
PheGenI | rs67707918 |
Biobank | rs67707918 |
1000 genomes | rs67707918 |
hgdp | rs67707918 |
ensembl | rs67707918 |
geneview | rs67707918 |
scholar | rs67707918 |
rs67707918 | |
pharmgkb | rs67707918 |
gwascentral | rs67707918 |
openSNP | rs67707918 |
23andMe | rs67707918 |
SNPshot | rs67707918 |
SNPdbe | rs67707918 |
MSV3d | rs67707918 |
GWAS Ctlg | rs67707918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67707918(A;A) rs67707918(T;T) |
Alt | rs67707918(A;A) rs67707918(T;T) |
Reference | Rs67707918(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta with normal sclerae |
Variation | info |
Gene | COL1A2 |
CLNDBN | Osteogenesis imperfecta with normal sclerae, dominant form |
Reversed | 0 |
HGVS | NC_000007.13:g.94039813G>A |
CLNSRC | |
CLNACC | RCV000490690.1, |