rs886044584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTTCC;CTTCC) | 0 | common in clinvar |
Chromosome | 6 |
Position | 33176751 |
Gene | COL11A2 |
is a | snp |
is | mentioned by |
dbSNP | rs886044584 |
dbSNP (classic) | rs886044584 |
ClinGen | rs886044584 |
ebi | rs886044584 |
HLI | rs886044584 |
Exac | rs886044584 |
Gnomad | rs886044584 |
Varsome | rs886044584 |
LitVar | rs886044584 |
Map | rs886044584 |
PheGenI | rs886044584 |
Biobank | rs886044584 |
1000 genomes | rs886044584 |
hgdp | rs886044584 |
ensembl | rs886044584 |
geneview | rs886044584 |
scholar | rs886044584 |
rs886044584 | |
pharmgkb | rs886044584 |
gwascentral | rs886044584 |
openSNP | rs886044584 |
23andMe | rs886044584 |
SNPshot | rs886044584 |
SNPdbe | rs886044584 |
MSV3d | rs886044584 |
GWAS Ctlg | rs886044584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044584(T;T) |
Alt | rs886044584(T;T) |
Reference | Rs886044584(CTTCC;CTTCC) |
Significance | Pathogenic |
Disease | Otospondylomegaepiphyseal dysplasia |
Variation | info |
Gene | COL11A2 |
CLNDBN | Otospondylomegaepiphyseal dysplasia |
Reversed | 0 |
HGVS | NC_000006.11:g.33144528_33144532delCTTCCinsT |
CLNSRC | |
CLNACC | RCV000268205.1, |