rs193922391
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922391(A;G) |
Make rs193922391(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 46858413 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs193922391 |
dbSNP (classic) | rs193922391 |
ClinGen | rs193922391 |
ebi | rs193922391 |
HLI | rs193922391 |
Exac | rs193922391 |
Gnomad | rs193922391 |
Varsome | rs193922391 |
LitVar | rs193922391 |
Map | rs193922391 |
PheGenI | rs193922391 |
Biobank | rs193922391 |
1000 genomes | rs193922391 |
hgdp | rs193922391 |
ensembl | rs193922391 |
geneview | rs193922391 |
scholar | rs193922391 |
rs193922391 | |
pharmgkb | rs193922391 |
gwascentral | rs193922391 |
openSNP | rs193922391 |
23andMe | rs193922391 |
SNPshot | rs193922391 |
SNPdbe | rs193922391 |
MSV3d | rs193922391 |
GWAS Ctlg | rs193922391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922391(G;G) |
Alt | rs193922391(G;G) |
Reference | Rs193922391(A;A) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000003.11:g.46899903T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000030327.3, RCV000223754.2, RCV000475456.1, |