rs863223792
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863223792(C;T) |
Make rs863223792(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 218436110 |
Gene | TGFB2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223792 |
dbSNP (classic) | rs863223792 |
ClinGen | rs863223792 |
ebi | rs863223792 |
HLI | rs863223792 |
Exac | rs863223792 |
Gnomad | rs863223792 |
Varsome | rs863223792 |
LitVar | rs863223792 |
Map | rs863223792 |
PheGenI | rs863223792 |
Biobank | rs863223792 |
1000 genomes | rs863223792 |
hgdp | rs863223792 |
ensembl | rs863223792 |
geneview | rs863223792 |
scholar | rs863223792 |
rs863223792 | |
pharmgkb | rs863223792 |
gwascentral | rs863223792 |
openSNP | rs863223792 |
23andMe | rs863223792 |
SNPshot | rs863223792 |
SNPdbe | rs863223792 |
MSV3d | rs863223792 |
GWAS Ctlg | rs863223792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223792(T;T) |
Alt | rs863223792(T;T) |
Reference | Rs863223792(C;C) |
Significance | Other |
Disease | not provided Loeys-Dietz syndrome 4 |
Variation | info |
Gene | TGFB2 |
CLNDBN | not provided Loeys-Dietz syndrome 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.218609452C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000195710.3, RCV000210465.2, |