rs727503244
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727503244(C;C) |
Make rs727503244(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23417573 |
Gene | MHRT, MIR208B, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727503244 |
dbSNP (classic) | rs727503244 |
ClinGen | rs727503244 |
ebi | rs727503244 |
HLI | rs727503244 |
Exac | rs727503244 |
Gnomad | rs727503244 |
Varsome | rs727503244 |
LitVar | rs727503244 |
Map | rs727503244 |
PheGenI | rs727503244 |
Biobank | rs727503244 |
1000 genomes | rs727503244 |
hgdp | rs727503244 |
ensembl | rs727503244 |
geneview | rs727503244 |
scholar | rs727503244 |
rs727503244 | |
pharmgkb | rs727503244 |
gwascentral | rs727503244 |
openSNP | rs727503244 |
23andMe | rs727503244 |
SNPshot | rs727503244 |
SNPdbe | rs727503244 |
MSV3d | rs727503244 |
GWAS Ctlg | rs727503244 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503244(C;C) |
Alt | rs727503244(C;C) |
Reference | Rs727503244(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 MHRT MIR208B |
CLNDBN | not specified Cardiomyopathy, restrictive Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23886782A>G |
CLNSRC | |
CLNACC | RCV000151240.2, RCV000208499.1, RCV000473362.1, |