rs267606628
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs267606628(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 34792528 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs267606628 |
dbSNP (classic) | rs267606628 |
ClinGen | rs267606628 |
ebi | rs267606628 |
HLI | rs267606628 |
Exac | rs267606628 |
Gnomad | rs267606628 |
Varsome | rs267606628 |
LitVar | rs267606628 |
Map | rs267606628 |
PheGenI | rs267606628 |
Biobank | rs267606628 |
1000 genomes | rs267606628 |
hgdp | rs267606628 |
ensembl | rs267606628 |
geneview | rs267606628 |
scholar | rs267606628 |
rs267606628 | |
pharmgkb | rs267606628 |
gwascentral | rs267606628 |
openSNP | rs267606628 |
23andMe | rs267606628 |
SNPshot | rs267606628 |
SNPdbe | rs267606628 |
MSV3d | rs267606628 |
GWAS Ctlg | rs267606628 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs267606628(G;G) rs267606628(T;T) |
Alt | rs267606628(G;G) rs267606628(T;T) |
Reference | Rs267606628(C;C) |
Significance | Pathogenic |
Disease | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 |
Variation | info |
Gene | ACTC1 LOC101928174 |
CLNDBN | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 |
Reversed | 1 |
HGVS | NC_000015.9:g.35084729G>A; NC_000015.9:g.35084729G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000463693.1, RCV000019995.27, |