rs121964859
From SNPedia
Merged into | rs45578238 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs121964859(-;-) |
Make rs121964859(-;AAG) |
Make rs121964859(AAG;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 201361972 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs121964859 |
dbSNP (classic) | rs121964859 |
ClinGen | rs121964859 |
ebi | rs121964859 |
HLI | rs121964859 |
Exac | rs121964859 |
Gnomad | rs121964859 |
Varsome | rs121964859 |
LitVar | rs121964859 |
Map | rs121964859 |
PheGenI | rs121964859 |
Biobank | rs121964859 |
1000 genomes | rs121964859 |
hgdp | rs121964859 |
ensembl | rs121964859 |
geneview | rs121964859 |
scholar | rs121964859 |
rs121964859 | |
pharmgkb | rs121964859 |
gwascentral | rs121964859 |
openSNP | rs121964859 |
23andMe | rs121964859 |
SNPshot | rs121964859 |
SNPdbe | rs121964859 |
MSV3d | rs121964859 |
GWAS Ctlg | rs121964859 |
Status | Merged into rs45578238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs121964859(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, |