rs104893819
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Loeys-Dietz Syndrome |
Make rs104893819(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 30688470 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893819 |
dbSNP (classic) | rs104893819 |
ClinGen | rs104893819 |
ebi | rs104893819 |
HLI | rs104893819 |
Exac | rs104893819 |
Gnomad | rs104893819 |
Varsome | rs104893819 |
LitVar | rs104893819 |
Map | rs104893819 |
PheGenI | rs104893819 |
Biobank | rs104893819 |
1000 genomes | rs104893819 |
hgdp | rs104893819 |
ensembl | rs104893819 |
geneview | rs104893819 |
scholar | rs104893819 |
rs104893819 | |
pharmgkb | rs104893819 |
gwascentral | rs104893819 |
openSNP | rs104893819 |
23andMe | rs104893819 |
SNPshot | rs104893819 |
SNPdbe | rs104893819 |
MSV3d | rs104893819 |
GWAS Ctlg | rs104893819 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs104893819(T;T) |
Alt | rs104893819(T;T) |
Reference | Rs104893819(C;C) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000003.11:g.30729962C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013344.24, RCV000157519.1, RCV000195964.1, RCV000253575.1, |