rs730880224
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Loeys-Dietz Syndrome |
Make rs730880224(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 30674127 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880224 |
dbSNP (classic) | rs730880224 |
ClinGen | rs730880224 |
ebi | rs730880224 |
HLI | rs730880224 |
Exac | rs730880224 |
Gnomad | rs730880224 |
Varsome | rs730880224 |
LitVar | rs730880224 |
Map | rs730880224 |
PheGenI | rs730880224 |
Biobank | rs730880224 |
1000 genomes | rs730880224 |
hgdp | rs730880224 |
ensembl | rs730880224 |
geneview | rs730880224 |
scholar | rs730880224 |
rs730880224 | |
pharmgkb | rs730880224 |
gwascentral | rs730880224 |
openSNP | rs730880224 |
23andMe | rs730880224 |
SNPshot | rs730880224 |
SNPdbe | rs730880224 |
MSV3d | rs730880224 |
GWAS Ctlg | rs730880224 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs730880224(A;A) rs730880224(T;T) |
Alt | rs730880224(A;A) rs730880224(T;T) |
Reference | Rs730880224(C;C) |
Significance | Pathogenic |
Disease | not provided Loeys-Dietz syndrome |
Variation | info |
Gene | TGFBR2 |
CLNDBN | not provided Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.30715619C>A; NC_000003.11:g.30715619C>T |
CLNSRC | |
CLNACC | RCV000199365.1, RCV000157518.1, |