rs786205102
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs786205102(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 134818847 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205102 |
dbSNP (classic) | rs786205102 |
ClinGen | rs786205102 |
ebi | rs786205102 |
HLI | rs786205102 |
Exac | rs786205102 |
Gnomad | rs786205102 |
Varsome | rs786205102 |
LitVar | rs786205102 |
Map | rs786205102 |
PheGenI | rs786205102 |
Biobank | rs786205102 |
1000 genomes | rs786205102 |
hgdp | rs786205102 |
ensembl | rs786205102 |
geneview | rs786205102 |
scholar | rs786205102 |
rs786205102 | |
pharmgkb | rs786205102 |
gwascentral | rs786205102 |
openSNP | rs786205102 |
23andMe | rs786205102 |
SNPshot | rs786205102 |
SNPdbe | rs786205102 |
MSV3d | rs786205102 |
GWAS Ctlg | rs786205102 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs786205102(-;-) |
Alt | rs786205102(-;-) |
Reference | Rs786205102(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137710693delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018733.24, |