rs200530211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200530211(A;A) |
Make rs200530211(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23416141 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs200530211 |
dbSNP (classic) | rs200530211 |
ClinGen | rs200530211 |
ebi | rs200530211 |
HLI | rs200530211 |
Exac | rs200530211 |
Gnomad | rs200530211 |
Varsome | rs200530211 |
LitVar | rs200530211 |
Map | rs200530211 |
PheGenI | rs200530211 |
Biobank | rs200530211 |
1000 genomes | rs200530211 |
hgdp | rs200530211 |
ensembl | rs200530211 |
geneview | rs200530211 |
scholar | rs200530211 |
rs200530211 | |
pharmgkb | rs200530211 |
gwascentral | rs200530211 |
openSNP | rs200530211 |
23andMe | rs200530211 |
SNPshot | rs200530211 |
SNPdbe | rs200530211 |
MSV3d | rs200530211 |
GWAS Ctlg | rs200530211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200530211(A;A) |
Alt | rs200530211(A;A) |
Reference | Rs200530211(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | not specified not provided Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000014.8:g.23885350G>A |
CLNSRC | |
CLNACC | RCV000154606.2, RCV000172042.1, RCV000470391.1, |