rs121918359
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918359(A;A) |
Make rs121918359(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 36872722 |
Gene | SMAD9 |
is a | snp |
is | mentioned by |
dbSNP | rs121918359 |
dbSNP (classic) | rs121918359 |
ClinGen | rs121918359 |
ebi | rs121918359 |
HLI | rs121918359 |
Exac | rs121918359 |
Gnomad | rs121918359 |
Varsome | rs121918359 |
LitVar | rs121918359 |
Map | rs121918359 |
PheGenI | rs121918359 |
Biobank | rs121918359 |
1000 genomes | rs121918359 |
hgdp | rs121918359 |
ensembl | rs121918359 |
geneview | rs121918359 |
scholar | rs121918359 |
rs121918359 | |
pharmgkb | rs121918359 |
gwascentral | rs121918359 |
openSNP | rs121918359 |
23andMe | rs121918359 |
SNPshot | rs121918359 |
SNPdbe | rs121918359 |
MSV3d | rs121918359 |
GWAS Ctlg | rs121918359 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918359(A;A) rs121918359(T;T) |
Alt | rs121918359(A;A) rs121918359(T;T) |
Reference | Rs121918359(C;C) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension 2 |
Variation | info |
Gene | SMAD9 |
CLNDBN | Primary pulmonary hypertension 2 |
Reversed | 1 |
HGVS | NC_000013.10:g.37446859G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006888.3, |
[PMID 30617053] Association of SNPs of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of EH in the Chinese Han population.