rs730880214
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880214(A;A) |
Make rs730880214(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 67181442 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880214 |
dbSNP (classic) | rs730880214 |
ClinGen | rs730880214 |
ebi | rs730880214 |
HLI | rs730880214 |
Exac | rs730880214 |
Gnomad | rs730880214 |
Varsome | rs730880214 |
LitVar | rs730880214 |
Map | rs730880214 |
PheGenI | rs730880214 |
Biobank | rs730880214 |
1000 genomes | rs730880214 |
hgdp | rs730880214 |
ensembl | rs730880214 |
geneview | rs730880214 |
scholar | rs730880214 |
rs730880214 | |
pharmgkb | rs730880214 |
gwascentral | rs730880214 |
openSNP | rs730880214 |
23andMe | rs730880214 |
SNPshot | rs730880214 |
SNPdbe | rs730880214 |
MSV3d | rs730880214 |
GWAS Ctlg | rs730880214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880214(A;A) |
Alt | rs730880214(A;A) |
Reference | Rs730880214(G;G) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome not provided |
Variation | info |
Gene | SMAD3 |
CLNDBN | Loeys-Dietz syndrome not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.67473780G>A |
CLNSRC | |
CLNACC | RCV000157501.1, RCV000197902.4, |