rs765079080
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(T;T) | 0 | common in clinvar |
Make rs765079080(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 134795057 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs765079080 |
dbSNP (classic) | rs765079080 |
ClinGen | rs765079080 |
ebi | rs765079080 |
HLI | rs765079080 |
Exac | rs765079080 |
Gnomad | rs765079080 |
Varsome | rs765079080 |
LitVar | rs765079080 |
Map | rs765079080 |
PheGenI | rs765079080 |
Biobank | rs765079080 |
1000 genomes | rs765079080 |
hgdp | rs765079080 |
ensembl | rs765079080 |
geneview | rs765079080 |
scholar | rs765079080 |
rs765079080 | |
pharmgkb | rs765079080 |
gwascentral | rs765079080 |
openSNP | rs765079080 |
23andMe | rs765079080 |
SNPshot | rs765079080 |
SNPdbe | rs765079080 |
MSV3d | rs765079080 |
GWAS Ctlg | rs765079080 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs765079080(G;G) |
Alt | rs765079080(G;G) |
Reference | Rs765079080(T;T) |
Significance | Other |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137686903T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018728.28, |