rs767734253
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs767734253(C;C) |
Make rs767734253(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 34793418 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs767734253 |
dbSNP (classic) | rs767734253 |
ClinGen | rs767734253 |
ebi | rs767734253 |
HLI | rs767734253 |
Exac | rs767734253 |
Gnomad | rs767734253 |
Varsome | rs767734253 |
LitVar | rs767734253 |
Map | rs767734253 |
PheGenI | rs767734253 |
Biobank | rs767734253 |
1000 genomes | rs767734253 |
hgdp | rs767734253 |
ensembl | rs767734253 |
geneview | rs767734253 |
scholar | rs767734253 |
rs767734253 | |
pharmgkb | rs767734253 |
gwascentral | rs767734253 |
openSNP | rs767734253 |
23andMe | rs767734253 |
SNPshot | rs767734253 |
SNPdbe | rs767734253 |
MSV3d | rs767734253 |
GWAS Ctlg | rs767734253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767734253(C;C) |
Alt | rs767734253(C;C) |
Reference | Rs767734253(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 11 |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | Familial hypertrophic cardiomyopathy 11 |
Reversed | 0 |
HGVS | NC_000015.9:g.35085619T>C |
CLNSRC | |
CLNACC | RCV000201495.1, |