rs727504354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727504354(G;G) |
Make rs727504354(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 63062635 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504354 |
dbSNP (classic) | rs727504354 |
ClinGen | rs727504354 |
ebi | rs727504354 |
HLI | rs727504354 |
Exac | rs727504354 |
Gnomad | rs727504354 |
Varsome | rs727504354 |
LitVar | rs727504354 |
Map | rs727504354 |
PheGenI | rs727504354 |
Biobank | rs727504354 |
1000 genomes | rs727504354 |
hgdp | rs727504354 |
ensembl | rs727504354 |
geneview | rs727504354 |
scholar | rs727504354 |
rs727504354 | |
pharmgkb | rs727504354 |
gwascentral | rs727504354 |
openSNP | rs727504354 |
23andMe | rs727504354 |
SNPshot | rs727504354 |
SNPdbe | rs727504354 |
MSV3d | rs727504354 |
GWAS Ctlg | rs727504354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504354(A;A) rs727504354(G;G) |
Alt | rs727504354(A;A) rs727504354(G;G) |
Reference | Rs727504354(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | TPM1 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000015.9:g.63354834T>A; NC_000015.9:g.63354834T>G |
CLNSRC | |
CLNACC | RCV000223807.1, RCV000154482.2, |