rs869312904
From SNPedia
Merged into | rs398122884 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TACAA;TACAA) | 0 | common in clinvar |
Make rs869312904(-;-) |
Make rs869312904(-;ACAAT) |
Make rs869312904(ACAAT;ACAAT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 218437432 |
Gene | TGFB2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312904 |
dbSNP (classic) | rs869312904 |
ClinGen | rs869312904 |
ebi | rs869312904 |
HLI | rs869312904 |
Exac | rs869312904 |
Gnomad | rs869312904 |
Varsome | rs869312904 |
LitVar | rs869312904 |
Map | rs869312904 |
PheGenI | rs869312904 |
Biobank | rs869312904 |
1000 genomes | rs869312904 |
hgdp | rs869312904 |
ensembl | rs869312904 |
geneview | rs869312904 |
scholar | rs869312904 |
rs869312904 | |
pharmgkb | rs869312904 |
gwascentral | rs869312904 |
openSNP | rs869312904 |
23andMe | rs869312904 |
SNPshot | rs869312904 |
SNPdbe | rs869312904 |
MSV3d | rs869312904 |
GWAS Ctlg | rs869312904 |
Status | Merged into rs398122884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs869312904(TACAA;TACAA) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 4 |
Variation | info |
Gene | TGFB2 |
CLNDBN | Loeys-Dietz syndrome 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.218610774_218610778delACAAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210478.2, |