rs397514616
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514616(G;T) |
Make rs397514616(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 52452217 |
Gene | TNNC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514616 |
dbSNP (classic) | rs397514616 |
ClinGen | rs397514616 |
ebi | rs397514616 |
HLI | rs397514616 |
Exac | rs397514616 |
Gnomad | rs397514616 |
Varsome | rs397514616 |
LitVar | rs397514616 |
Map | rs397514616 |
PheGenI | rs397514616 |
Biobank | rs397514616 |
1000 genomes | rs397514616 |
hgdp | rs397514616 |
ensembl | rs397514616 |
geneview | rs397514616 |
scholar | rs397514616 |
rs397514616 | |
pharmgkb | rs397514616 |
gwascentral | rs397514616 |
openSNP | rs397514616 |
23andMe | rs397514616 |
SNPshot | rs397514616 |
SNPdbe | rs397514616 |
MSV3d | rs397514616 |
GWAS Ctlg | rs397514616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514616(A;A) rs397514616(T;T) |
Alt | rs397514616(A;A) rs397514616(T;T) |
Reference | Rs397514616(G;G) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 13 not provided |
Variation | info |
Gene | TNNC1 |
CLNDBN | Familial hypertrophic cardiomyopathy 13 not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.52486233C>A; NC_000003.11:g.52486233C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033053.22, RCV000159193.2, |