rs727503504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503504(C;G) |
Make rs727503504(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 55154071 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503504 |
dbSNP (classic) | rs727503504 |
ClinGen | rs727503504 |
ebi | rs727503504 |
HLI | rs727503504 |
Exac | rs727503504 |
Gnomad | rs727503504 |
Varsome | rs727503504 |
LitVar | rs727503504 |
Map | rs727503504 |
PheGenI | rs727503504 |
Biobank | rs727503504 |
1000 genomes | rs727503504 |
hgdp | rs727503504 |
ensembl | rs727503504 |
geneview | rs727503504 |
scholar | rs727503504 |
rs727503504 | |
pharmgkb | rs727503504 |
gwascentral | rs727503504 |
openSNP | rs727503504 |
23andMe | rs727503504 |
SNPshot | rs727503504 |
SNPdbe | rs727503504 |
MSV3d | rs727503504 |
GWAS Ctlg | rs727503504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503504(G;G) rs727503504(T;T) |
Alt | rs727503504(G;G) rs727503504(T;T) |
Reference | Rs727503504(C;C) |
Significance | Pathogenic |
Disease | Familial restrictive cardiomyopathy Cardiomyopathy not provided Hypertrophic cardiomyopathy not specified Dilated cardiomyopathy 1FF Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1 |
Variation | info |
Gene | TNNI3 |
CLNDBN | Familial restrictive cardiomyopathy Cardiomyopathy, restrictive not provided Hypertrophic cardiomyopathy not specified Dilated cardiomyopathy 1FF Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000019.9:g.55665439G>A; NC_000019.9:g.55665439G>C |
CLNSRC | |
CLNACC | RCV000156074.2, RCV000157530.1, RCV000159231.4, RCV000456293.1, RCV000152077.1, RCV000197009.1, |