rs200631005
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200631005(A;G) |
Make rs200631005(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 236751561 |
Gene | ACTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs200631005 |
dbSNP (classic) | rs200631005 |
ClinGen | rs200631005 |
ebi | rs200631005 |
HLI | rs200631005 |
Exac | rs200631005 |
Gnomad | rs200631005 |
Varsome | rs200631005 |
LitVar | rs200631005 |
Map | rs200631005 |
PheGenI | rs200631005 |
Biobank | rs200631005 |
1000 genomes | rs200631005 |
hgdp | rs200631005 |
ensembl | rs200631005 |
geneview | rs200631005 |
scholar | rs200631005 |
rs200631005 | |
pharmgkb | rs200631005 |
gwascentral | rs200631005 |
openSNP | rs200631005 |
23andMe | rs200631005 |
SNPshot | rs200631005 |
SNPdbe | rs200631005 |
MSV3d | rs200631005 |
GWAS Ctlg | rs200631005 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200631005(C;C) rs200631005(G;G) |
Alt | rs200631005(C;C) rs200631005(G;G) |
Reference | Rs200631005(A;A) |
Significance | Other |
Disease | not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | ACTN2 |
CLNDBN | not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000001.10:g.236914861A>G |
CLNSRC | |
CLNACC | RCV000183264.3, RCV000234704.2, RCV000241991.1, |