rs727504234
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504234(C;T) |
Make rs727504234(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47347658 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727504234 |
dbSNP (classic) | rs727504234 |
ClinGen | rs727504234 |
ebi | rs727504234 |
HLI | rs727504234 |
Exac | rs727504234 |
Gnomad | rs727504234 |
Varsome | rs727504234 |
LitVar | rs727504234 |
Map | rs727504234 |
PheGenI | rs727504234 |
Biobank | rs727504234 |
1000 genomes | rs727504234 |
hgdp | rs727504234 |
ensembl | rs727504234 |
geneview | rs727504234 |
scholar | rs727504234 |
rs727504234 | |
pharmgkb | rs727504234 |
gwascentral | rs727504234 |
openSNP | rs727504234 |
23andMe | rs727504234 |
SNPshot | rs727504234 |
SNPdbe | rs727504234 |
MSV3d | rs727504234 |
GWAS Ctlg | rs727504234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504234(T;T) |
Alt | rs727504234(T;T) |
Reference | Rs727504234(C;C) |
Significance | Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47369209G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000154200.2, RCV000168759.2, |