rs770888294
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs770888294(A;A) |
Make rs770888294(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 33179077 |
Gene | COL11A2 |
is a | snp |
is | mentioned by |
dbSNP | rs770888294 |
dbSNP (classic) | rs770888294 |
ClinGen | rs770888294 |
ebi | rs770888294 |
HLI | rs770888294 |
Exac | rs770888294 |
Gnomad | rs770888294 |
Varsome | rs770888294 |
LitVar | rs770888294 |
Map | rs770888294 |
PheGenI | rs770888294 |
Biobank | rs770888294 |
1000 genomes | rs770888294 |
hgdp | rs770888294 |
ensembl | rs770888294 |
geneview | rs770888294 |
scholar | rs770888294 |
rs770888294 | |
pharmgkb | rs770888294 |
gwascentral | rs770888294 |
openSNP | rs770888294 |
23andMe | rs770888294 |
SNPshot | rs770888294 |
SNPdbe | rs770888294 |
MSV3d | rs770888294 |
GWAS Ctlg | rs770888294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770888294(A;A) rs770888294(T;T) |
Alt | rs770888294(A;A) rs770888294(T;T) |
Reference | Rs770888294(C;C) |
Significance | Probable-Pathogenic |
Disease | Multiple joint dislocations |
Variation | info |
Gene | COL11A2 |
CLNDBN | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects |
Reversed | 0 |
HGVS | NC_000006.11:g.33146854C>T |
CLNSRC | |
CLNACC | RCV000171392.1, |