rs387906852
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Loeys-Dietz Syndrome |
(G;G) | 0 | common in clinvar |
Make rs387906852(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 67181418 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs387906852 |
dbSNP (classic) | rs387906852 |
ClinGen | rs387906852 |
ebi | rs387906852 |
HLI | rs387906852 |
Exac | rs387906852 |
Gnomad | rs387906852 |
Varsome | rs387906852 |
LitVar | rs387906852 |
Map | rs387906852 |
PheGenI | rs387906852 |
Biobank | rs387906852 |
1000 genomes | rs387906852 |
hgdp | rs387906852 |
ensembl | rs387906852 |
geneview | rs387906852 |
scholar | rs387906852 |
rs387906852 | |
pharmgkb | rs387906852 |
gwascentral | rs387906852 |
openSNP | rs387906852 |
23andMe | rs387906852 |
SNPshot | rs387906852 |
SNPdbe | rs387906852 |
MSV3d | rs387906852 |
GWAS Ctlg | rs387906852 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs387906852(A;A) |
Alt | rs387906852(A;A) |
Reference | Rs387906852(G;G) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 3 |
Variation | info |
Gene | SMAD3 |
CLNDBN | Loeys-Dietz syndrome 3 |
Reversed | 0 |
HGVS | NC_000015.9:g.67473756G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023245.3, |