rs796051885
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051885(C;T) |
Make rs796051885(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 75963344 |
Gene | TGFB3 |
is a | snp |
is | mentioned by |
dbSNP | rs796051885 |
dbSNP (classic) | rs796051885 |
ClinGen | rs796051885 |
ebi | rs796051885 |
HLI | rs796051885 |
Exac | rs796051885 |
Gnomad | rs796051885 |
Varsome | rs796051885 |
LitVar | rs796051885 |
Map | rs796051885 |
PheGenI | rs796051885 |
Biobank | rs796051885 |
1000 genomes | rs796051885 |
hgdp | rs796051885 |
ensembl | rs796051885 |
geneview | rs796051885 |
scholar | rs796051885 |
rs796051885 | |
pharmgkb | rs796051885 |
gwascentral | rs796051885 |
openSNP | rs796051885 |
23andMe | rs796051885 |
SNPshot | rs796051885 |
SNPdbe | rs796051885 |
MSV3d | rs796051885 |
GWAS Ctlg | rs796051885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051885(T;T) |
Alt | rs796051885(T;T) |
Reference | Rs796051885(C;C) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 5 not provided |
Variation | info |
Gene | TGFB3 |
CLNDBN | Loeys-Dietz syndrome 5 not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.76429687G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185630.4, RCV000332014.2, |