rs587776880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AT) | 7 | Loeys-Dietz Syndrome |
(AT;AT) | 0 | common in clinvar |
Make rs587776880(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 67181323 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs587776880 |
dbSNP (classic) | rs587776880 |
ClinGen | rs587776880 |
ebi | rs587776880 |
HLI | rs587776880 |
Exac | rs587776880 |
Gnomad | rs587776880 |
Varsome | rs587776880 |
LitVar | rs587776880 |
Map | rs587776880 |
PheGenI | rs587776880 |
Biobank | rs587776880 |
1000 genomes | rs587776880 |
hgdp | rs587776880 |
ensembl | rs587776880 |
geneview | rs587776880 |
scholar | rs587776880 |
rs587776880 | |
pharmgkb | rs587776880 |
gwascentral | rs587776880 |
openSNP | rs587776880 |
23andMe | rs587776880 |
SNPshot | rs587776880 |
SNPdbe | rs587776880 |
MSV3d | rs587776880 |
GWAS Ctlg | rs587776880 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs587776880(-;-) |
Alt | rs587776880(-;-) |
Reference | Rs587776880(AT;AT) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 3 |
Variation | info |
Gene | SMAD3 |
CLNDBN | Loeys-Dietz syndrome 3 |
Reversed | 0 |
HGVS | NC_000015.9:g.67473661_67473662delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023242.4, |