rs794727760
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(C;C) | 0 | common in clinvar |
Make rs794727760(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134817785 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727760 |
dbSNP (classic) | rs794727760 |
ClinGen | rs794727760 |
ebi | rs794727760 |
HLI | rs794727760 |
Exac | rs794727760 |
Gnomad | rs794727760 |
Varsome | rs794727760 |
LitVar | rs794727760 |
Map | rs794727760 |
PheGenI | rs794727760 |
Biobank | rs794727760 |
1000 genomes | rs794727760 |
hgdp | rs794727760 |
ensembl | rs794727760 |
geneview | rs794727760 |
scholar | rs794727760 |
rs794727760 | |
pharmgkb | rs794727760 |
gwascentral | rs794727760 |
openSNP | rs794727760 |
23andMe | rs794727760 |
SNPshot | rs794727760 |
SNPdbe | rs794727760 |
MSV3d | rs794727760 |
GWAS Ctlg | rs794727760 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs794727760(-;-) |
Alt | rs794727760(-;-) |
Reference | Rs794727760(C;C) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137709631delC |
CLNSRC | |
CLNACC | RCV000179137.1, |