rs267606741
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606741(A;A) |
Make rs267606741(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94411066 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606741 |
dbSNP (classic) | rs267606741 |
ClinGen | rs267606741 |
ebi | rs267606741 |
HLI | rs267606741 |
Exac | rs267606741 |
Gnomad | rs267606741 |
Varsome | rs267606741 |
LitVar | rs267606741 |
Map | rs267606741 |
PheGenI | rs267606741 |
Biobank | rs267606741 |
1000 genomes | rs267606741 |
hgdp | rs267606741 |
ensembl | rs267606741 |
geneview | rs267606741 |
scholar | rs267606741 |
rs267606741 | |
pharmgkb | rs267606741 |
gwascentral | rs267606741 |
openSNP | rs267606741 |
23andMe | rs267606741 |
SNPshot | rs267606741 |
SNPdbe | rs267606741 |
MSV3d | rs267606741 |
GWAS Ctlg | rs267606741 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606741(A;A) |
Alt | rs267606741(A;A) |
Reference | Rs267606741(G;G) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | COL1A2 |
CLNDBN | Osteogenesis imperfecta, recessive perinatal lethal |
Reversed | 0 |
HGVS | NC_000007.13:g.94040378G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018822.28, |