rs483352835
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483352835(C;T) |
Make rs483352835(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 201362395 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs483352835 |
dbSNP (classic) | rs483352835 |
ClinGen | rs483352835 |
ebi | rs483352835 |
HLI | rs483352835 |
Exac | rs483352835 |
Gnomad | rs483352835 |
Varsome | rs483352835 |
LitVar | rs483352835 |
Map | rs483352835 |
PheGenI | rs483352835 |
Biobank | rs483352835 |
1000 genomes | rs483352835 |
hgdp | rs483352835 |
ensembl | rs483352835 |
geneview | rs483352835 |
scholar | rs483352835 |
rs483352835 | |
pharmgkb | rs483352835 |
gwascentral | rs483352835 |
openSNP | rs483352835 |
23andMe | rs483352835 |
SNPshot | rs483352835 |
SNPdbe | rs483352835 |
MSV3d | rs483352835 |
GWAS Ctlg | rs483352835 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352835(T;T) |
Alt | rs483352835(T;T) |
Reference | Rs483352835(C;C) |
Significance | Probable-Pathogenic |
Disease | Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | Dilated cardiomyopathy 1DD not specified not provided Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Reversed | 0 |
HGVS | NC_000001.10:g.201331523C>T |
CLNSRC | |
CLNACC | RCV000119341.2, RCV000159305.2, RCV000223749.1, RCV000475521.1, |