rs863225100
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs863225100(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 23423936 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs863225100 |
dbSNP (classic) | rs863225100 |
ClinGen | rs863225100 |
ebi | rs863225100 |
HLI | rs863225100 |
Exac | rs863225100 |
Gnomad | rs863225100 |
Varsome | rs863225100 |
LitVar | rs863225100 |
Map | rs863225100 |
PheGenI | rs863225100 |
Biobank | rs863225100 |
1000 genomes | rs863225100 |
hgdp | rs863225100 |
ensembl | rs863225100 |
geneview | rs863225100 |
scholar | rs863225100 |
rs863225100 | |
pharmgkb | rs863225100 |
gwascentral | rs863225100 |
openSNP | rs863225100 |
23andMe | rs863225100 |
SNPshot | rs863225100 |
SNPdbe | rs863225100 |
MSV3d | rs863225100 |
GWAS Ctlg | rs863225100 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs863225100(A;A) |
Alt | rs863225100(A;A) |
Reference | Rs863225100(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23893145C>T |
CLNSRC | |
CLNACC | RCV000201512.1, RCV000494219.1, |