rs267607125
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607125(C;T) |
Make rs267607125(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 52453993 |
Gene | NISCH, TNNC1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607125 |
dbSNP (classic) | rs267607125 |
ClinGen | rs267607125 |
ebi | rs267607125 |
HLI | rs267607125 |
Exac | rs267607125 |
Gnomad | rs267607125 |
Varsome | rs267607125 |
LitVar | rs267607125 |
Map | rs267607125 |
PheGenI | rs267607125 |
Biobank | rs267607125 |
1000 genomes | rs267607125 |
hgdp | rs267607125 |
ensembl | rs267607125 |
geneview | rs267607125 |
scholar | rs267607125 |
rs267607125 | |
pharmgkb | rs267607125 |
gwascentral | rs267607125 |
openSNP | rs267607125 |
23andMe | rs267607125 |
SNPshot | rs267607125 |
SNPdbe | rs267607125 |
MSV3d | rs267607125 |
GWAS Ctlg | rs267607125 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607125(T;T) |
Alt | rs267607125(T;T) |
Reference | Rs267607125(C;C) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 13 not specified not provided |
Variation | info |
Gene | TNNC1 NISCH |
CLNDBN | Familial hypertrophic cardiomyopathy 13 not specified not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.52488009G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013256.23, RCV000037762.3, RCV000159204.2, |