rs267606753
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606753(A;G) |
Make rs267606753(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 19188253 |
Gene | CSRP3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606753 |
dbSNP (classic) | rs267606753 |
ClinGen | rs267606753 |
ebi | rs267606753 |
HLI | rs267606753 |
Exac | rs267606753 |
Gnomad | rs267606753 |
Varsome | rs267606753 |
LitVar | rs267606753 |
Map | rs267606753 |
PheGenI | rs267606753 |
Biobank | rs267606753 |
1000 genomes | rs267606753 |
hgdp | rs267606753 |
ensembl | rs267606753 |
geneview | rs267606753 |
scholar | rs267606753 |
rs267606753 | |
pharmgkb | rs267606753 |
gwascentral | rs267606753 |
openSNP | rs267606753 |
23andMe | rs267606753 |
SNPshot | rs267606753 |
SNPdbe | rs267606753 |
MSV3d | rs267606753 |
GWAS Ctlg | rs267606753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606753(G;G) |
Alt | rs267606753(G;G) |
Reference | Rs267606753(A;A) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 12 |
Variation | info |
Gene | CSRP3 |
CLNDBN | Familial hypertrophic cardiomyopathy 12 |
Reversed | 1 |
HGVS | NC_000011.9:g.19209800_19209804delTCCGAinsCCCCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009324.4, |