rs886043926
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 1 |
Position | 11950456 |
Gene | PLOD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043926 |
dbSNP (classic) | rs886043926 |
ClinGen | rs886043926 |
ebi | rs886043926 |
HLI | rs886043926 |
Exac | rs886043926 |
Gnomad | rs886043926 |
Varsome | rs886043926 |
LitVar | rs886043926 |
Map | rs886043926 |
PheGenI | rs886043926 |
Biobank | rs886043926 |
1000 genomes | rs886043926 |
hgdp | rs886043926 |
ensembl | rs886043926 |
geneview | rs886043926 |
scholar | rs886043926 |
rs886043926 | |
pharmgkb | rs886043926 |
gwascentral | rs886043926 |
openSNP | rs886043926 |
23andMe | rs886043926 |
SNPshot | rs886043926 |
SNPdbe | rs886043926 |
MSV3d | rs886043926 |
GWAS Ctlg | rs886043926 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043926(-;-) |
Alt | rs886043926(-;-) |
Reference | Rs886043926(A;A) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | PLOD1 |
CLNDBN | Ehlers-Danlos syndrome, hydroxylysine-deficient |
Reversed | 0 |
HGVS | NC_000001.10:g.12010513delA |
CLNSRC | |
CLNACC | RCV000290872.1, |