rs387906855
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906855(C;T) |
Make rs387906855(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 67181370 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs387906855 |
dbSNP (classic) | rs387906855 |
ClinGen | rs387906855 |
ebi | rs387906855 |
HLI | rs387906855 |
Exac | rs387906855 |
Gnomad | rs387906855 |
Varsome | rs387906855 |
LitVar | rs387906855 |
Map | rs387906855 |
PheGenI | rs387906855 |
Biobank | rs387906855 |
1000 genomes | rs387906855 |
hgdp | rs387906855 |
ensembl | rs387906855 |
geneview | rs387906855 |
scholar | rs387906855 |
rs387906855 | |
pharmgkb | rs387906855 |
gwascentral | rs387906855 |
openSNP | rs387906855 |
23andMe | rs387906855 |
SNPshot | rs387906855 |
SNPdbe | rs387906855 |
MSV3d | rs387906855 |
GWAS Ctlg | rs387906855 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906855(G;G) rs387906855(T;T) |
Alt | rs387906855(G;G) rs387906855(T;T) |
Reference | Rs387906855(C;C) |
Significance | Pathogenic |
Disease | not specified Loeys-Dietz syndrome 3 |
Variation | info |
Gene | SMAD3 |
CLNDBN | not specified Loeys-Dietz syndrome 3 |
Reversed | 0 |
HGVS | NC_000015.9:g.67473708C>G; NC_000015.9:g.67473708C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000198998.2, RCV000023249.3, |