rs6910140
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs6910140(C;C) |
Make rs6910140(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 70234554 |
Gene | COL9A1 |
is a | snp |
is | mentioned by |
dbSNP | rs6910140 |
dbSNP (classic) | rs6910140 |
ClinGen | rs6910140 |
ebi | rs6910140 |
HLI | rs6910140 |
Exac | rs6910140 |
Gnomad | rs6910140 |
Varsome | rs6910140 |
LitVar | rs6910140 |
Map | rs6910140 |
PheGenI | rs6910140 |
Biobank | rs6910140 |
1000 genomes | rs6910140 |
hgdp | rs6910140 |
ensembl | rs6910140 |
geneview | rs6910140 |
scholar | rs6910140 |
rs6910140 | |
pharmgkb | rs6910140 |
gwascentral | rs6910140 |
openSNP | rs6910140 |
23andMe | rs6910140 |
SNPshot | rs6910140 |
SNPdbe | rs6910140 |
MSV3d | rs6910140 |
GWAS Ctlg | rs6910140 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 25774918] COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population
ClinVar | |
---|---|
Risk | rs6910140(C;C) rs6910140(G;G) |
Alt | rs6910140(C;C) rs6910140(G;G) |
Reference | Rs6910140(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Multiple Epiphyseal Dysplasia Stickler Syndrome |
Variation | info |
Gene | COL9A1 |
CLNDBN | not specified Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome, Recessive |
Reversed | 0 |
HGVS | NC_000006.11:g.70944257T>C |
CLNSRC | |
CLNACC | RCV000251679.2, RCV000270277.1, RCV000360320.1, |