rs869025531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025531(C;T) |
Make rs869025531(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 218405213 |
Gene | TGFB2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025531 |
dbSNP (classic) | rs869025531 |
ClinGen | rs869025531 |
ebi | rs869025531 |
HLI | rs869025531 |
Exac | rs869025531 |
Gnomad | rs869025531 |
Varsome | rs869025531 |
LitVar | rs869025531 |
Map | rs869025531 |
PheGenI | rs869025531 |
Biobank | rs869025531 |
1000 genomes | rs869025531 |
hgdp | rs869025531 |
ensembl | rs869025531 |
geneview | rs869025531 |
scholar | rs869025531 |
rs869025531 | |
pharmgkb | rs869025531 |
gwascentral | rs869025531 |
openSNP | rs869025531 |
23andMe | rs869025531 |
SNPshot | rs869025531 |
SNPdbe | rs869025531 |
MSV3d | rs869025531 |
GWAS Ctlg | rs869025531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025531(T;T) |
Alt | rs869025531(T;T) |
Reference | Rs869025531(C;C) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome |
Variation | info |
Gene | TGFB2 |
CLNDBN | Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.218578555C>T |
CLNSRC | |
CLNACC | RCV000208340.1, |