rs199474814
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199474814(A;A) |
Make rs199474814(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 110911094 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs199474814 |
dbSNP (classic) | rs199474814 |
ClinGen | rs199474814 |
ebi | rs199474814 |
HLI | rs199474814 |
Exac | rs199474814 |
Gnomad | rs199474814 |
Varsome | rs199474814 |
LitVar | rs199474814 |
Map | rs199474814 |
PheGenI | rs199474814 |
Biobank | rs199474814 |
1000 genomes | rs199474814 |
hgdp | rs199474814 |
ensembl | rs199474814 |
geneview | rs199474814 |
scholar | rs199474814 |
rs199474814 | |
pharmgkb | rs199474814 |
gwascentral | rs199474814 |
openSNP | rs199474814 |
23andMe | rs199474814 |
SNPshot | rs199474814 |
SNPdbe | rs199474814 |
MSV3d | rs199474814 |
GWAS Ctlg | rs199474814 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474814(A;A) |
Alt | rs199474814(A;A) |
Reference | Rs199474814(G;G) |
Significance | Other |
Disease | not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 10 |
Variation | info |
Gene | MYL2 |
CLNDBN | not provided Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.111348898C>T |
CLNSRC | |
CLNACC | RCV000119380.2, RCV000156897.2, RCV000226326.1, |