rs199476312
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199476312(C;C) |
Make rs199476312(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 63060891 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs199476312 |
dbSNP (classic) | rs199476312 |
ClinGen | rs199476312 |
ebi | rs199476312 |
HLI | rs199476312 |
Exac | rs199476312 |
Gnomad | rs199476312 |
Varsome | rs199476312 |
LitVar | rs199476312 |
Map | rs199476312 |
PheGenI | rs199476312 |
Biobank | rs199476312 |
1000 genomes | rs199476312 |
hgdp | rs199476312 |
ensembl | rs199476312 |
geneview | rs199476312 |
scholar | rs199476312 |
rs199476312 | |
pharmgkb | rs199476312 |
gwascentral | rs199476312 |
openSNP | rs199476312 |
23andMe | rs199476312 |
SNPshot | rs199476312 |
SNPdbe | rs199476312 |
MSV3d | rs199476312 |
GWAS Ctlg | rs199476312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476312(C;C) |
Alt | rs199476312(C;C) |
Reference | Rs199476312(T;T) |
Significance | Untested |
Disease | not provided Primary familial hypertrophic cardiomyopathy not specified |
Variation | info |
Gene | TPM1 |
CLNDBN | not provided Primary familial hypertrophic cardiomyopathy not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.63353090T>C |
CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
CLNACC | RCV000024575.3, RCV000148916.1, RCV000417400.1, |