rs104894204
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs104894204(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 19188245 |
Gene | CSRP3 |
is a | snp |
is | mentioned by |
dbSNP | rs104894204 |
dbSNP (classic) | rs104894204 |
ClinGen | rs104894204 |
ebi | rs104894204 |
HLI | rs104894204 |
Exac | rs104894204 |
Gnomad | rs104894204 |
Varsome | rs104894204 |
LitVar | rs104894204 |
Map | rs104894204 |
PheGenI | rs104894204 |
Biobank | rs104894204 |
1000 genomes | rs104894204 |
hgdp | rs104894204 |
ensembl | rs104894204 |
geneview | rs104894204 |
scholar | rs104894204 |
rs104894204 | |
pharmgkb | rs104894204 |
gwascentral | rs104894204 |
openSNP | rs104894204 |
23andMe | rs104894204 |
SNPshot | rs104894204 |
SNPdbe | rs104894204 |
MSV3d | rs104894204 |
GWAS Ctlg | rs104894204 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs104894204(G;G) |
Alt | rs104894204(G;G) |
Reference | Rs104894204(T;T) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 12 |
Variation | info |
Gene | CSRP3 |
CLNDBN | Familial hypertrophic cardiomyopathy 12 |
Reversed | 1 |
HGVS | NC_000011.9:g.19209792A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009322.2, |