rs397516358
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516358(C;C) |
Make rs397516358(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 55151888 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516358 |
dbSNP (classic) | rs397516358 |
ClinGen | rs397516358 |
ebi | rs397516358 |
HLI | rs397516358 |
Exac | rs397516358 |
Gnomad | rs397516358 |
Varsome | rs397516358 |
LitVar | rs397516358 |
Map | rs397516358 |
PheGenI | rs397516358 |
Biobank | rs397516358 |
1000 genomes | rs397516358 |
hgdp | rs397516358 |
ensembl | rs397516358 |
geneview | rs397516358 |
scholar | rs397516358 |
rs397516358 | |
pharmgkb | rs397516358 |
gwascentral | rs397516358 |
openSNP | rs397516358 |
23andMe | rs397516358 |
SNPshot | rs397516358 |
SNPdbe | rs397516358 |
MSV3d | rs397516358 |
GWAS Ctlg | rs397516358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516358(C;C) rs397516358(T;T) |
Alt | rs397516358(C;C) rs397516358(T;T) |
Reference | Rs397516358(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | not provided not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55663256C>A; NC_000019.9:g.55663256C>G |
CLNSRC | |
CLNACC | RCV000159244.2, RCV000036307.2, RCV000234031.1, |