rs727503512
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503512(C;G) |
Make rs727503512(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 201363349 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs727503512 |
dbSNP (classic) | rs727503512 |
ClinGen | rs727503512 |
ebi | rs727503512 |
HLI | rs727503512 |
Exac | rs727503512 |
Gnomad | rs727503512 |
Varsome | rs727503512 |
LitVar | rs727503512 |
Map | rs727503512 |
PheGenI | rs727503512 |
Biobank | rs727503512 |
1000 genomes | rs727503512 |
hgdp | rs727503512 |
ensembl | rs727503512 |
geneview | rs727503512 |
scholar | rs727503512 |
rs727503512 | |
pharmgkb | rs727503512 |
gwascentral | rs727503512 |
openSNP | rs727503512 |
23andMe | rs727503512 |
SNPshot | rs727503512 |
SNPdbe | rs727503512 |
MSV3d | rs727503512 |
GWAS Ctlg | rs727503512 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503512(G;G) rs727503512(T;T) |
Alt | rs727503512(G;G) rs727503512(T;T) |
Reference | Rs727503512(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified |
Variation | info |
Gene | TNNT2 |
CLNDBN | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.201332477G>A; NC_000001.10:g.201332477G>C |
CLNSRC | |
CLNACC | RCV000223622.1, RCV000223699.1, RCV000474826.1, RCV000152100.1, |