rs193922661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193922661(A;A) |
Make rs193922661(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 30672335 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922661 |
dbSNP (classic) | rs193922661 |
ClinGen | rs193922661 |
ebi | rs193922661 |
HLI | rs193922661 |
Exac | rs193922661 |
Gnomad | rs193922661 |
Varsome | rs193922661 |
LitVar | rs193922661 |
Map | rs193922661 |
PheGenI | rs193922661 |
Biobank | rs193922661 |
1000 genomes | rs193922661 |
hgdp | rs193922661 |
ensembl | rs193922661 |
geneview | rs193922661 |
scholar | rs193922661 |
rs193922661 | |
pharmgkb | rs193922661 |
gwascentral | rs193922661 |
openSNP | rs193922661 |
23andMe | rs193922661 |
SNPshot | rs193922661 |
SNPdbe | rs193922661 |
MSV3d | rs193922661 |
GWAS Ctlg | rs193922661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922661(A;A) |
Alt | rs193922661(A;A) |
Reference | Rs193922661(T;T) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.30713827T>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030543.1, |