rs113605875
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Loeys-Dietz Syndrome |
(C;G) | 7 | Loeys-Dietz Syndrome |
(G;G) | 0 | common in complete genomics |
Make rs113605875(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 99149253 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs113605875 |
dbSNP (classic) | rs113605875 |
ClinGen | rs113605875 |
ebi | rs113605875 |
HLI | rs113605875 |
Exac | rs113605875 |
Gnomad | rs113605875 |
Varsome | rs113605875 |
LitVar | rs113605875 |
Map | rs113605875 |
PheGenI | rs113605875 |
Biobank | rs113605875 |
1000 genomes | rs113605875 |
hgdp | rs113605875 |
ensembl | rs113605875 |
geneview | rs113605875 |
scholar | rs113605875 |
rs113605875 | |
pharmgkb | rs113605875 |
gwascentral | rs113605875 |
openSNP | rs113605875 |
23andMe | rs113605875 |
SNPshot | rs113605875 |
SNPdbe | rs113605875 |
MSV3d | rs113605875 |
GWAS Ctlg | rs113605875 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs113605875(A;A) rs113605875(C;C) rs113605875(T;T) |
Alt | rs113605875(A;A) rs113605875(C;C) rs113605875(T;T) |
Reference | Rs113605875(G;G) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | TGFBR1 |
CLNDBN | Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000009.11:g.101911535G>A; NC_000009.11:g.101911535G>C; NC_000009.11:g.101911535G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013351.26, RCV000196834.1, RCV000211857.1, RCV000463090.1, RCV000013348.25, RCV000417662.1, |