rs727503171
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503171(C;T) |
Make rs727503171(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47332580 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503171 |
dbSNP (classic) | rs727503171 |
ClinGen | rs727503171 |
ebi | rs727503171 |
HLI | rs727503171 |
Exac | rs727503171 |
Gnomad | rs727503171 |
Varsome | rs727503171 |
LitVar | rs727503171 |
Map | rs727503171 |
PheGenI | rs727503171 |
Biobank | rs727503171 |
1000 genomes | rs727503171 |
hgdp | rs727503171 |
ensembl | rs727503171 |
geneview | rs727503171 |
scholar | rs727503171 |
rs727503171 | |
pharmgkb | rs727503171 |
gwascentral | rs727503171 |
openSNP | rs727503171 |
23andMe | rs727503171 |
SNPshot | rs727503171 |
SNPdbe | rs727503171 |
MSV3d | rs727503171 |
GWAS Ctlg | rs727503171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503171(T;T) |
Alt | rs727503171(T;T) |
Reference | Rs727503171(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354131G>A |
CLNSRC | |
CLNACC | RCV000151066.2, RCV000208211.1, RCV000263553.1, RCV000320904.1, RCV000377792.1, |