rs111033560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | Familial hypertrophic cardiomyopathy (possible) |
(T;T) | 0 | common in clinvar |
Make rs111033560(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 118559037 |
Gene | CEP85L, PLN |
is a | snp |
is | mentioned by |
dbSNP | rs111033560 |
dbSNP (classic) | rs111033560 |
ClinGen | rs111033560 |
ebi | rs111033560 |
HLI | rs111033560 |
Exac | rs111033560 |
Gnomad | rs111033560 |
Varsome | rs111033560 |
LitVar | rs111033560 |
Map | rs111033560 |
PheGenI | rs111033560 |
Biobank | rs111033560 |
1000 genomes | rs111033560 |
hgdp | rs111033560 |
ensembl | rs111033560 |
geneview | rs111033560 |
scholar | rs111033560 |
rs111033560 | |
pharmgkb | rs111033560 |
gwascentral | rs111033560 |
openSNP | rs111033560 |
23andMe | rs111033560 |
SNPshot | rs111033560 |
SNPdbe | rs111033560 |
MSV3d | rs111033560 |
GWAS Ctlg | rs111033560 |
Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
ClinVar | |
---|---|
Risk | rs111033560(G;G) |
Alt | rs111033560(G;G) |
Reference | Rs111033560(T;T) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1P Familial hypertrophic cardiomyopathy 18 Primary familial hypertrophic cardiomyopathy Sudden cardiac death Cardiac arrest Dilated cardiomyopathy |
Variation | info |
Gene | CEP85L PLN |
CLNDBN | Dilated cardiomyopathy 1P Familial hypertrophic cardiomyopathy 18 Primary familial hypertrophic cardiomyopathy Sudden cardiac death Cardiac arrest Dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000006.11:g.118880200T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014607.25, RCV000022712.25, RCV000151666.2, RCV000157419.1, RCV000157420.1, RCV000171826.1, |