rs148808089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148808089(A;A) |
Make rs148808089(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23429038 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs148808089 |
dbSNP (classic) | rs148808089 |
ClinGen | rs148808089 |
ebi | rs148808089 |
HLI | rs148808089 |
Exac | rs148808089 |
Gnomad | rs148808089 |
Varsome | rs148808089 |
LitVar | rs148808089 |
Map | rs148808089 |
PheGenI | rs148808089 |
Biobank | rs148808089 |
1000 genomes | rs148808089 |
hgdp | rs148808089 |
ensembl | rs148808089 |
geneview | rs148808089 |
scholar | rs148808089 |
rs148808089 | |
pharmgkb | rs148808089 |
gwascentral | rs148808089 |
openSNP | rs148808089 |
23andMe | rs148808089 |
SNPshot | rs148808089 |
SNPdbe | rs148808089 |
MSV3d | rs148808089 |
GWAS Ctlg | rs148808089 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148808089(A;A) |
Alt | rs148808089(A;A) |
Reference | Rs148808089(G;G) |
Significance | Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23898247G>A |
CLNSRC | Centenary Institute |
CLNACC | RCV000154549.1, RCV000162335.1, RCV000464365.1, |