rs4523540
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs4523540(A;A) |
Make rs4523540(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201359639 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs4523540 |
dbSNP (classic) | rs4523540 |
ClinGen | rs4523540 |
ebi | rs4523540 |
HLI | rs4523540 |
Exac | rs4523540 |
Gnomad | rs4523540 |
Varsome | rs4523540 |
LitVar | rs4523540 |
Map | rs4523540 |
PheGenI | rs4523540 |
Biobank | rs4523540 |
1000 genomes | rs4523540 |
hgdp | rs4523540 |
ensembl | rs4523540 |
geneview | rs4523540 |
scholar | rs4523540 |
rs4523540 | |
pharmgkb | rs4523540 |
gwascentral | rs4523540 |
openSNP | rs4523540 |
23andMe | rs4523540 |
SNPshot | rs4523540 |
SNPdbe | rs4523540 |
MSV3d | rs4523540 |
GWAS Ctlg | rs4523540 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4523540(A;A) rs4523540(C;C) |
Alt | rs4523540(A;A) rs4523540(C;C) |
Reference | Rs4523540(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Reversed | 0 |
HGVS | NC_000001.10:g.201328767T>A; NC_000001.10:g.201328767T>C |
CLNSRC | |
CLNACC | RCV000159345.1, RCV000474789.1, |