rs863223829
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AAG) | 7 | Loeys-Dietz Syndrome |
(AGA;AGA) | 0 | common in clinvar |
Make rs863223829(-;-) |
Make rs863223829(AAG;AAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 99137967 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223829 |
dbSNP (classic) | rs863223829 |
ClinGen | rs863223829 |
ebi | rs863223829 |
HLI | rs863223829 |
Exac | rs863223829 |
Gnomad | rs863223829 |
Varsome | rs863223829 |
LitVar | rs863223829 |
Map | rs863223829 |
PheGenI | rs863223829 |
Biobank | rs863223829 |
1000 genomes | rs863223829 |
hgdp | rs863223829 |
ensembl | rs863223829 |
geneview | rs863223829 |
scholar | rs863223829 |
rs863223829 | |
pharmgkb | rs863223829 |
gwascentral | rs863223829 |
openSNP | rs863223829 |
23andMe | rs863223829 |
SNPshot | rs863223829 |
SNPdbe | rs863223829 |
MSV3d | rs863223829 |
GWAS Ctlg | rs863223829 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs863223829(-;-) |
Alt | rs863223829(-;-) |
Reference | Rs863223829(AGA;AGA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | TGFBR1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.101900249_101900251delAAG |
CLNSRC | |
CLNACC | RCV000197382.2, |