rs12077871
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs12077871(A;A) |
| Make rs12077871(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40307478 |
| Gene | COL9A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12077871 |
| dbSNP (classic) | rs12077871 |
| ClinGen | rs12077871 |
| ebi | rs12077871 |
| HLI | rs12077871 |
| Exac | rs12077871 |
| Gnomad | rs12077871 |
| Varsome | rs12077871 |
| LitVar | rs12077871 |
| Map | rs12077871 |
| PheGenI | rs12077871 |
| Biobank | rs12077871 |
| 1000 genomes | rs12077871 |
| hgdp | rs12077871 |
| ensembl | rs12077871 |
| geneview | rs12077871 |
| scholar | rs12077871 |
| rs12077871 | |
| pharmgkb | rs12077871 |
| gwascentral | rs12077871 |
| openSNP | rs12077871 |
| 23andMe | rs12077871 |
| SNPshot | rs12077871 |
| SNPdbe | rs12077871 |
| MSV3d | rs12077871 |
| GWAS Ctlg | rs12077871 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24983932] Meta-Analysis of the Association Between COL9A2 Genetic Polymorphisms and Lumbar Disc Disease Susceptibility
| ClinVar | |
|---|---|
| Risk | rs12077871(A;A) rs12077871(T;T) |
| Alt | rs12077871(A;A) rs12077871(T;T) |
| Reference | Rs12077871(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Stickler Syndrome Multiple Epiphyseal Dysplasia |
| Variation | info |
| Gene | COL9A2 |
| CLNDBN | not specified Stickler Syndrome, Recessive Multiple Epiphyseal Dysplasia, Dominant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.40773150G>A |
| CLNSRC | |
| CLNACC | RCV000243675.1, RCV000338210.1, RCV000393485.1, |
