rs587782979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Loeys-Dietz Syndrome |
(G;G) | 0 | common in clinvar |
Make rs587782979(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 30674232 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782979 |
dbSNP (classic) | rs587782979 |
ClinGen | rs587782979 |
ebi | rs587782979 |
HLI | rs587782979 |
Exac | rs587782979 |
Gnomad | rs587782979 |
Varsome | rs587782979 |
LitVar | rs587782979 |
Map | rs587782979 |
PheGenI | rs587782979 |
Biobank | rs587782979 |
1000 genomes | rs587782979 |
hgdp | rs587782979 |
ensembl | rs587782979 |
geneview | rs587782979 |
scholar | rs587782979 |
rs587782979 | |
pharmgkb | rs587782979 |
gwascentral | rs587782979 |
openSNP | rs587782979 |
23andMe | rs587782979 |
SNPshot | rs587782979 |
SNPdbe | rs587782979 |
MSV3d | rs587782979 |
GWAS Ctlg | rs587782979 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs587782979(A;A) |
Alt | rs587782979(A;A) |
Reference | Rs587782979(G;G) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.30715724G>A |
CLNSRC | |
CLNACC | RCV000143955.1, |