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, |