rs886043641
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 9 |
Position | 134731538 |
Gene | COL5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043641 |
dbSNP (classic) | rs886043641 |
ClinGen | rs886043641 |
ebi | rs886043641 |
HLI | rs886043641 |
Exac | rs886043641 |
Gnomad | rs886043641 |
Varsome | rs886043641 |
LitVar | rs886043641 |
Map | rs886043641 |
PheGenI | rs886043641 |
Biobank | rs886043641 |
1000 genomes | rs886043641 |
hgdp | rs886043641 |
ensembl | rs886043641 |
geneview | rs886043641 |
scholar | rs886043641 |
rs886043641 | |
pharmgkb | rs886043641 |
gwascentral | rs886043641 |
openSNP | rs886043641 |
23andMe | rs886043641 |
SNPshot | rs886043641 |
SNPdbe | rs886043641 |
MSV3d | rs886043641 |
GWAS Ctlg | rs886043641 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043641(T;T) |
Alt | rs886043641(T;T) |
Reference | Rs886043641(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.137623384G>T |
CLNSRC | |
CLNACC | RCV000379384.1, |