rs796051886
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796051886(C;C) |
Make rs796051886(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 75963455 |
Gene | TGFB3 |
is a | snp |
is | mentioned by |
dbSNP | rs796051886 |
dbSNP (classic) | rs796051886 |
ClinGen | rs796051886 |
ebi | rs796051886 |
HLI | rs796051886 |
Exac | rs796051886 |
Gnomad | rs796051886 |
Varsome | rs796051886 |
LitVar | rs796051886 |
Map | rs796051886 |
PheGenI | rs796051886 |
Biobank | rs796051886 |
1000 genomes | rs796051886 |
hgdp | rs796051886 |
ensembl | rs796051886 |
geneview | rs796051886 |
scholar | rs796051886 |
rs796051886 | |
pharmgkb | rs796051886 |
gwascentral | rs796051886 |
openSNP | rs796051886 |
23andMe | rs796051886 |
SNPshot | rs796051886 |
SNPdbe | rs796051886 |
MSV3d | rs796051886 |
GWAS Ctlg | rs796051886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051886(C;C) |
Alt | rs796051886(C;C) |
Reference | Rs796051886(G;G) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 5 |
Variation | info |
Gene | TGFB3 |
CLNDBN | Loeys-Dietz syndrome 5 |
Reversed | 1 |
HGVS | NC_000014.8:g.76429798C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185632.3, |