rs727504264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs727504264(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 63060935 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504264 |
dbSNP (classic) | rs727504264 |
ClinGen | rs727504264 |
ebi | rs727504264 |
HLI | rs727504264 |
Exac | rs727504264 |
Gnomad | rs727504264 |
Varsome | rs727504264 |
LitVar | rs727504264 |
Map | rs727504264 |
PheGenI | rs727504264 |
Biobank | rs727504264 |
1000 genomes | rs727504264 |
hgdp | rs727504264 |
ensembl | rs727504264 |
geneview | rs727504264 |
scholar | rs727504264 |
rs727504264 | |
pharmgkb | rs727504264 |
gwascentral | rs727504264 |
openSNP | rs727504264 |
23andMe | rs727504264 |
SNPshot | rs727504264 |
SNPdbe | rs727504264 |
MSV3d | rs727504264 |
GWAS Ctlg | rs727504264 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727504264(C;C) |
Alt | rs727504264(C;C) |
Reference | Rs727504264(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | TPM1 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000015.9:g.63353134G>C |
CLNSRC | |
CLNACC | RCV000154247.2, |