rs772445337
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(G;G) | 0 | common in clinvar |
Make rs772445337(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134812641 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs772445337 |
dbSNP (classic) | rs772445337 |
ClinGen | rs772445337 |
ebi | rs772445337 |
HLI | rs772445337 |
Exac | rs772445337 |
Gnomad | rs772445337 |
Varsome | rs772445337 |
LitVar | rs772445337 |
Map | rs772445337 |
PheGenI | rs772445337 |
Biobank | rs772445337 |
1000 genomes | rs772445337 |
hgdp | rs772445337 |
ensembl | rs772445337 |
geneview | rs772445337 |
scholar | rs772445337 |
rs772445337 | |
pharmgkb | rs772445337 |
gwascentral | rs772445337 |
openSNP | rs772445337 |
23andMe | rs772445337 |
SNPshot | rs772445337 |
SNPdbe | rs772445337 |
MSV3d | rs772445337 |
GWAS Ctlg | rs772445337 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs772445337(A;A) |
Alt | rs772445337(A;A) |
Reference | Rs772445337(G;G) |
Significance | Probable-Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137704487G>A |
CLNSRC | |
CLNACC | RCV000178644.1, |