rs267607123
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607123(A;A) |
Make rs267607123(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 52452222 |
Gene | TNNC1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607123 |
dbSNP (classic) | rs267607123 |
ClinGen | rs267607123 |
ebi | rs267607123 |
HLI | rs267607123 |
Exac | rs267607123 |
Gnomad | rs267607123 |
Varsome | rs267607123 |
LitVar | rs267607123 |
Map | rs267607123 |
PheGenI | rs267607123 |
Biobank | rs267607123 |
1000 genomes | rs267607123 |
hgdp | rs267607123 |
ensembl | rs267607123 |
geneview | rs267607123 |
scholar | rs267607123 |
rs267607123 | |
pharmgkb | rs267607123 |
gwascentral | rs267607123 |
openSNP | rs267607123 |
23andMe | rs267607123 |
SNPshot | rs267607123 |
SNPdbe | rs267607123 |
MSV3d | rs267607123 |
GWAS Ctlg | rs267607123 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607123(A;A) |
Alt | rs267607123(A;A) |
Reference | Rs267607123(T;T) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 13 not specified |
Variation | info |
Gene | TNNC1 |
CLNDBN | Familial hypertrophic cardiomyopathy 13 not specified |
Reversed | 1 |
HGVS | NC_000003.11:g.52486238A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013255.23, RCV000215162.2, |