rs863223471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
Make rs863223471(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134774874 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223471 |
dbSNP (classic) | rs863223471 |
ClinGen | rs863223471 |
ebi | rs863223471 |
HLI | rs863223471 |
Exac | rs863223471 |
Gnomad | rs863223471 |
Varsome | rs863223471 |
LitVar | rs863223471 |
Map | rs863223471 |
PheGenI | rs863223471 |
Biobank | rs863223471 |
1000 genomes | rs863223471 |
hgdp | rs863223471 |
ensembl | rs863223471 |
geneview | rs863223471 |
scholar | rs863223471 |
rs863223471 | |
pharmgkb | rs863223471 |
gwascentral | rs863223471 |
openSNP | rs863223471 |
23andMe | rs863223471 |
SNPshot | rs863223471 |
SNPdbe | rs863223471 |
MSV3d | rs863223471 |
GWAS Ctlg | rs863223471 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs863223471(T;T) |
Alt | rs863223471(T;T) |
Reference | Rs863223471(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.137666720_137666721insT |
CLNSRC | |
CLNACC | RCV000195500.1, |