rs398123563
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123563(A;A) |
Make rs398123563(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 229432568 |
Gene | ACTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123563 |
dbSNP (classic) | rs398123563 |
ClinGen | rs398123563 |
ebi | rs398123563 |
HLI | rs398123563 |
Exac | rs398123563 |
Gnomad | rs398123563 |
Varsome | rs398123563 |
LitVar | rs398123563 |
Map | rs398123563 |
PheGenI | rs398123563 |
Biobank | rs398123563 |
1000 genomes | rs398123563 |
hgdp | rs398123563 |
ensembl | rs398123563 |
geneview | rs398123563 |
scholar | rs398123563 |
rs398123563 | |
pharmgkb | rs398123563 |
gwascentral | rs398123563 |
openSNP | rs398123563 |
23andMe | rs398123563 |
SNPshot | rs398123563 |
SNPdbe | rs398123563 |
MSV3d | rs398123563 |
GWAS Ctlg | rs398123563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123563(A;A) rs398123563(C;C) |
Alt | rs398123563(A;A) rs398123563(C;C) |
Reference | Rs398123563(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ACTA1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.229568315C>G; NC_000001.10:g.229568315C>T |
CLNSRC | HGMD |
CLNACC | RCV000387173.1, RCV000079465.4, |