rs72656402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72656402(G;T) |
Make rs72656402(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94410429 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs72656402 |
dbSNP (classic) | rs72656402 |
ClinGen | rs72656402 |
ebi | rs72656402 |
HLI | rs72656402 |
Exac | rs72656402 |
Gnomad | rs72656402 |
Varsome | rs72656402 |
LitVar | rs72656402 |
Map | rs72656402 |
PheGenI | rs72656402 |
Biobank | rs72656402 |
1000 genomes | rs72656402 |
hgdp | rs72656402 |
ensembl | rs72656402 |
geneview | rs72656402 |
scholar | rs72656402 |
rs72656402 | |
pharmgkb | rs72656402 |
gwascentral | rs72656402 |
openSNP | rs72656402 |
23andMe | rs72656402 |
SNPshot | rs72656402 |
SNPdbe | rs72656402 |
MSV3d | rs72656402 |
GWAS Ctlg | rs72656402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72656402(T;T) |
Alt | rs72656402(T;T) |
Reference | Rs72656402(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.94039741G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018813.26, |