rs2856655
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2856655(A;A) |
Make rs2856655(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47337534 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs2856655 |
dbSNP (classic) | rs2856655 |
ClinGen | rs2856655 |
ebi | rs2856655 |
HLI | rs2856655 |
Exac | rs2856655 |
Gnomad | rs2856655 |
Varsome | rs2856655 |
LitVar | rs2856655 |
Map | rs2856655 |
PheGenI | rs2856655 |
Biobank | rs2856655 |
1000 genomes | rs2856655 |
hgdp | rs2856655 |
ensembl | rs2856655 |
geneview | rs2856655 |
scholar | rs2856655 |
rs2856655 | |
pharmgkb | rs2856655 |
gwascentral | rs2856655 |
openSNP | rs2856655 |
23andMe | rs2856655 |
SNPshot | rs2856655 |
SNPdbe | rs2856655 |
MSV3d | rs2856655 |
GWAS Ctlg | rs2856655 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2856655(A;A) rs2856655(C;C) |
Alt | rs2856655(A;A) rs2856655(C;C) |
Reference | Rs2856655(G;G) |
Significance | Pathogenic |
Disease | not provided Familial hypertrophic cardiomyopathy 4 not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Familial hypertrophic cardiomyopathy 4 not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47359085C>G; NC_000011.9:g.47359085C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000158160.2, RCV000009148.6, RCV000158159.3, RCV000168802.2, RCV000211727.1, |