rs193922662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922662(A;G) |
Make rs193922662(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 30672346 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922662 |
dbSNP (classic) | rs193922662 |
ClinGen | rs193922662 |
ebi | rs193922662 |
HLI | rs193922662 |
Exac | rs193922662 |
Gnomad | rs193922662 |
Varsome | rs193922662 |
LitVar | rs193922662 |
Map | rs193922662 |
PheGenI | rs193922662 |
Biobank | rs193922662 |
1000 genomes | rs193922662 |
hgdp | rs193922662 |
ensembl | rs193922662 |
geneview | rs193922662 |
scholar | rs193922662 |
rs193922662 | |
pharmgkb | rs193922662 |
gwascentral | rs193922662 |
openSNP | rs193922662 |
23andMe | rs193922662 |
SNPshot | rs193922662 |
SNPdbe | rs193922662 |
MSV3d | rs193922662 |
GWAS Ctlg | rs193922662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922662(G;G) |
Alt | rs193922662(G;G) |
Reference | Rs193922662(A;A) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.30713838A>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030545.1, |