rs28933405
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
(G;T) | 3 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 3 | Familial Hypertrophic Cardiomyopathy |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 178785999 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs28933405 |
dbSNP (classic) | rs28933405 |
ClinGen | rs28933405 |
ebi | rs28933405 |
HLI | rs28933405 |
Exac | rs28933405 |
Gnomad | rs28933405 |
Varsome | rs28933405 |
LitVar | rs28933405 |
Map | rs28933405 |
PheGenI | rs28933405 |
Biobank | rs28933405 |
1000 genomes | rs28933405 |
hgdp | rs28933405 |
ensembl | rs28933405 |
geneview | rs28933405 |
scholar | rs28933405 |
rs28933405 | |
pharmgkb | rs28933405 |
gwascentral | rs28933405 |
openSNP | rs28933405 |
23andMe | rs28933405 |
SNPshot | rs28933405 |
SNPdbe | rs28933405 |
MSV3d | rs28933405 |
GWAS Ctlg | rs28933405 |
Max Magnitude | 3 |
Familial hypertrophic cardiomyopathy
see also OMIM 188840.0001
ClinVar | |
---|---|
Risk | rs28933405(A;A) Rs28933405(T;T) |
Alt | rs28933405(A;A) Rs28933405(T;T) |
Reference | Rs28933405(G;G) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 9 |
Variation | info |
Gene | TTN |
CLNDBN | Familial hypertrophic cardiomyopathy 9 |
Reversed | 1 |
HGVS | NC_000002.11:g.179650726C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013484.24, |