rs34396614
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34396614(C;G) |
Make rs34396614(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 31820503 |
Gene | MYLK2 |
is a | snp |
is | mentioned by |
dbSNP | rs34396614 |
dbSNP (classic) | rs34396614 |
ClinGen | rs34396614 |
ebi | rs34396614 |
HLI | rs34396614 |
Exac | rs34396614 |
Gnomad | rs34396614 |
Varsome | rs34396614 |
LitVar | rs34396614 |
Map | rs34396614 |
PheGenI | rs34396614 |
Biobank | rs34396614 |
1000 genomes | rs34396614 |
hgdp | rs34396614 |
ensembl | rs34396614 |
geneview | rs34396614 |
scholar | rs34396614 |
rs34396614 | |
pharmgkb | rs34396614 |
gwascentral | rs34396614 |
openSNP | rs34396614 |
23andMe | rs34396614 |
SNPshot | rs34396614 |
SNPdbe | rs34396614 |
MSV3d | rs34396614 |
GWAS Ctlg | rs34396614 |
GMAF | 0.01377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34396614(G;G) rs34396614(T;T) |
Alt | rs34396614(G;G) rs34396614(T;T) |
Reference | Rs34396614(C;C) |
Significance | Non-pathogenic |
Disease | Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYLK2 |
CLNDBN | Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000020.10:g.30408306C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000030331.3, RCV000039788.3, RCV000205159.3, RCV000340253.1, |
[PMID 17344846] Patterns of somatic mutation in human cancer genomes.