rs786205872
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205872(-;-) |
Make rs786205872(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 101206427 |
Gene | PLOD3 |
is a | snp |
is | mentioned by |
dbSNP | rs786205872 |
dbSNP (classic) | rs786205872 |
ClinGen | rs786205872 |
ebi | rs786205872 |
HLI | rs786205872 |
Exac | rs786205872 |
Gnomad | rs786205872 |
Varsome | rs786205872 |
LitVar | rs786205872 |
Map | rs786205872 |
PheGenI | rs786205872 |
Biobank | rs786205872 |
1000 genomes | rs786205872 |
hgdp | rs786205872 |
ensembl | rs786205872 |
geneview | rs786205872 |
scholar | rs786205872 |
rs786205872 | |
pharmgkb | rs786205872 |
gwascentral | rs786205872 |
openSNP | rs786205872 |
23andMe | rs786205872 |
SNPshot | rs786205872 |
SNPdbe | rs786205872 |
MSV3d | rs786205872 |
GWAS Ctlg | rs786205872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205872(-;-) |
Alt | rs786205872(-;-) |
Reference | Rs786205872(T;T) |
Significance | Pathogenic |
Disease | Bone fragility with contractures |
Variation | info |
Gene | PLOD3 |
CLNDBN | Bone fragility with contractures, arterial rupture, and deafness |
Reversed | 1 |
HGVS | NC_000007.13:g.100849708delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007023.3, |