rs267607130
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(C;C) | 6 | Dilated cardiomyopathy, type 1FF |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55157052 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs267607130 |
dbSNP (classic) | rs267607130 |
ClinGen | rs267607130 |
ebi | rs267607130 |
HLI | rs267607130 |
Exac | rs267607130 |
Gnomad | rs267607130 |
Varsome | rs267607130 |
LitVar | rs267607130 |
Map | rs267607130 |
PheGenI | rs267607130 |
Biobank | rs267607130 |
1000 genomes | rs267607130 |
hgdp | rs267607130 |
ensembl | rs267607130 |
geneview | rs267607130 |
scholar | rs267607130 |
rs267607130 | |
pharmgkb | rs267607130 |
gwascentral | rs267607130 |
openSNP | rs267607130 |
23andMe | rs267607130 |
SNPshot | rs267607130 |
SNPdbe | rs267607130 |
MSV3d | rs267607130 |
GWAS Ctlg | rs267607130 |
Max Magnitude | 6.2 |
rs267607130, also known as c.106A>C, p.Lys36Gln and K36Q, represents a rare mutation in the TNNI3 gene on chromosome 19.
A single copy of the rare rs267607130(C) allele is reported to lead to dilated cardiomyopathy, type 1FF. For more information, see OMIM 191044.0012.
This mutation is referred to as i5007736 by 23andMe.
ClinVar | |
---|---|
Risk | Rs267607130(C;C) |
Alt | Rs267607130(C;C) |
Reference | Rs267607130(A;A) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1FF |
Variation | info |
Gene | TNNI3 |
CLNDBN | Dilated cardiomyopathy 1FF |
Reversed | 1 |
HGVS | NC_000019.9:g.55668420T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013243.25, |