rs863223852
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863223852(C;T) |
Make rs863223852(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 30688476 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223852 |
dbSNP (classic) | rs863223852 |
ClinGen | rs863223852 |
ebi | rs863223852 |
HLI | rs863223852 |
Exac | rs863223852 |
Gnomad | rs863223852 |
Varsome | rs863223852 |
LitVar | rs863223852 |
Map | rs863223852 |
PheGenI | rs863223852 |
Biobank | rs863223852 |
1000 genomes | rs863223852 |
hgdp | rs863223852 |
ensembl | rs863223852 |
geneview | rs863223852 |
scholar | rs863223852 |
rs863223852 | |
pharmgkb | rs863223852 |
gwascentral | rs863223852 |
openSNP | rs863223852 |
23andMe | rs863223852 |
SNPshot | rs863223852 |
SNPdbe | rs863223852 |
MSV3d | rs863223852 |
GWAS Ctlg | rs863223852 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223852(T;T) |
Alt | rs863223852(T;T) |
Reference | Rs863223852(C;C) |
Significance | Pathogenic |
Disease | not provided Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 |
Variation | info |
Gene | TGFBR2 |
CLNDBN | not provided Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.30729968C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000199072.1, RCV000244033.1, RCV000490801.1, |