rs587776770
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 7 | Loeys-Dietz Syndrome |
Make rs587776770(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 30688382 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776770 |
dbSNP (classic) | rs587776770 |
ClinGen | rs587776770 |
ebi | rs587776770 |
HLI | rs587776770 |
Exac | rs587776770 |
Gnomad | rs587776770 |
Varsome | rs587776770 |
LitVar | rs587776770 |
Map | rs587776770 |
PheGenI | rs587776770 |
Biobank | rs587776770 |
1000 genomes | rs587776770 |
hgdp | rs587776770 |
ensembl | rs587776770 |
geneview | rs587776770 |
scholar | rs587776770 |
rs587776770 | |
pharmgkb | rs587776770 |
gwascentral | rs587776770 |
openSNP | rs587776770 |
23andMe | rs587776770 |
SNPshot | rs587776770 |
SNPdbe | rs587776770 |
MSV3d | rs587776770 |
GWAS Ctlg | rs587776770 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs587776770(G;G) |
Alt | rs587776770(G;G) |
Reference | Rs587776770(A;A) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 2 |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Loeys-Dietz syndrome 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.30729874A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013341.17, |