rs200754249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200754249(A;A) |
Make rs200754249(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 201368212 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs200754249 |
dbSNP (classic) | rs200754249 |
ClinGen | rs200754249 |
ebi | rs200754249 |
HLI | rs200754249 |
Exac | rs200754249 |
Gnomad | rs200754249 |
Varsome | rs200754249 |
LitVar | rs200754249 |
Map | rs200754249 |
PheGenI | rs200754249 |
Biobank | rs200754249 |
1000 genomes | rs200754249 |
hgdp | rs200754249 |
ensembl | rs200754249 |
geneview | rs200754249 |
scholar | rs200754249 |
rs200754249 | |
pharmgkb | rs200754249 |
gwascentral | rs200754249 |
openSNP | rs200754249 |
23andMe | rs200754249 |
SNPshot | rs200754249 |
SNPdbe | rs200754249 |
MSV3d | rs200754249 |
GWAS Ctlg | rs200754249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200754249(A;A) rs200754249(T;T) |
Alt | rs200754249(A;A) rs200754249(T;T) |
Reference | Rs200754249(G;G) |
Significance | Other |
Disease | not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
Reversed | 0 |
HGVS | NC_000001.10:g.201337340G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036624.7, RCV000148900.1, RCV000149450.1, RCV000456645.1, |