rs398122885
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 7 | Loeys-Dietz Syndrome |
(C;C) | 0 | common in clinvar |
Make rs398122885(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 218434381 |
Gene | TGFB2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122885 |
dbSNP (classic) | rs398122885 |
ClinGen | rs398122885 |
ebi | rs398122885 |
HLI | rs398122885 |
Exac | rs398122885 |
Gnomad | rs398122885 |
Varsome | rs398122885 |
LitVar | rs398122885 |
Map | rs398122885 |
PheGenI | rs398122885 |
Biobank | rs398122885 |
1000 genomes | rs398122885 |
hgdp | rs398122885 |
ensembl | rs398122885 |
geneview | rs398122885 |
scholar | rs398122885 |
rs398122885 | |
pharmgkb | rs398122885 |
gwascentral | rs398122885 |
openSNP | rs398122885 |
23andMe | rs398122885 |
SNPshot | rs398122885 |
SNPdbe | rs398122885 |
MSV3d | rs398122885 |
GWAS Ctlg | rs398122885 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs398122885(A;A) |
Alt | rs398122885(A;A) |
Reference | Rs398122885(C;C) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 4 |
Variation | info |
Gene | TGFB2 |
CLNDBN | Loeys-Dietz syndrome 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.218607723C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030735.26, |