rs149433837
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149433837(A;A) |
Make rs149433837(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 236757492 |
Gene | ACTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs149433837 |
dbSNP (classic) | rs149433837 |
ClinGen | rs149433837 |
ebi | rs149433837 |
HLI | rs149433837 |
Exac | rs149433837 |
Gnomad | rs149433837 |
Varsome | rs149433837 |
LitVar | rs149433837 |
Map | rs149433837 |
PheGenI | rs149433837 |
Biobank | rs149433837 |
1000 genomes | rs149433837 |
hgdp | rs149433837 |
ensembl | rs149433837 |
geneview | rs149433837 |
scholar | rs149433837 |
rs149433837 | |
pharmgkb | rs149433837 |
gwascentral | rs149433837 |
openSNP | rs149433837 |
23andMe | rs149433837 |
SNPshot | rs149433837 |
SNPdbe | rs149433837 |
MSV3d | rs149433837 |
GWAS Ctlg | rs149433837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149433837(A;A) rs149433837(T;T) |
Alt | rs149433837(A;A) rs149433837(T;T) |
Reference | Rs149433837(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified not provided Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | ACTN2 |
CLNDBN | not specified not provided Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000001.10:g.236920792C>A; NC_000001.10:g.236920792C>T |
CLNSRC | |
CLNACC | RCV000154596.3, RCV000172516.1, RCV000231780.1, RCV000245171.1, RCV000183272.2, |