rs45578238
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs45578238(-;-) |
Make rs45578238(-;AGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 201361971 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs45578238 |
dbSNP (classic) | rs45578238 |
ClinGen | rs45578238 |
ebi | rs45578238 |
HLI | rs45578238 |
Exac | rs45578238 |
Gnomad | rs45578238 |
Varsome | rs45578238 |
LitVar | rs45578238 |
Map | rs45578238 |
PheGenI | rs45578238 |
Biobank | rs45578238 |
1000 genomes | rs45578238 |
hgdp | rs45578238 |
ensembl | rs45578238 |
geneview | rs45578238 |
scholar | rs45578238 |
rs45578238 | |
pharmgkb | rs45578238 |
gwascentral | rs45578238 |
openSNP | rs45578238 |
23andMe | rs45578238 |
SNPshot | rs45578238 |
SNPdbe | rs45578238 |
MSV3d | rs45578238 |
GWAS Ctlg | rs45578238 |
Merged from | Rs121964859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs45578238(AGA;AGA) |
Significance | Pathogenic |
Disease | Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TNNT2 |
CLNDBN | Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.201331099_201331101delTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000036607.4, RCV000159333.1, RCV000168972.1, RCV000211868.1, RCV000223828.1, |