rs1801182
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1801182(C;C) |
Make rs1801182(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94398387 |
Gene | COL1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs1801182 |
dbSNP (classic) | rs1801182 |
ClinGen | rs1801182 |
ebi | rs1801182 |
HLI | rs1801182 |
Exac | rs1801182 |
Gnomad | rs1801182 |
Varsome | rs1801182 |
LitVar | rs1801182 |
Map | rs1801182 |
PheGenI | rs1801182 |
Biobank | rs1801182 |
1000 genomes | rs1801182 |
hgdp | rs1801182 |
ensembl | rs1801182 |
geneview | rs1801182 |
scholar | rs1801182 |
rs1801182 | |
pharmgkb | rs1801182 |
gwascentral | rs1801182 |
openSNP | rs1801182 |
23andMe | rs1801182 |
SNPshot | rs1801182 |
SNPdbe | rs1801182 |
MSV3d | rs1801182 |
GWAS Ctlg | rs1801182 |
GMAF | 0.1961 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 21602843] No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women
ClinVar | |
---|---|
Risk | rs1801182(C;C) |
Alt | rs1801182(C;C) |
Reference | Rs1801182(T;T) |
Significance | Non-pathogenic |
Disease | not specified Ehlers-Danlos syndrome Osteogenesis Imperfecta |
Variation | info |
Gene | COL1A2 |
CLNDBN | not specified Ehlers-Danlos syndrome, procollagen proteinase deficient Osteogenesis Imperfecta, Dominant |
Reversed | 0 |
HGVS | NC_000007.13:g.94027699T>C |
CLNSRC | |
CLNACC | RCV000176976.3, RCV000275828.1, RCV000333509.1, |