rs61897383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61897383(G;T) |
Make rs61897383(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47342061 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs61897383 |
dbSNP (classic) | rs61897383 |
ClinGen | rs61897383 |
ebi | rs61897383 |
HLI | rs61897383 |
Exac | rs61897383 |
Gnomad | rs61897383 |
Varsome | rs61897383 |
LitVar | rs61897383 |
Map | rs61897383 |
PheGenI | rs61897383 |
Biobank | rs61897383 |
1000 genomes | rs61897383 |
hgdp | rs61897383 |
ensembl | rs61897383 |
geneview | rs61897383 |
scholar | rs61897383 |
rs61897383 | |
pharmgkb | rs61897383 |
gwascentral | rs61897383 |
openSNP | rs61897383 |
23andMe | rs61897383 |
SNPshot | rs61897383 |
SNPdbe | rs61897383 |
MSV3d | rs61897383 |
GWAS Ctlg | rs61897383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61897383(A;A) rs61897383(T;T) |
Alt | rs61897383(A;A) rs61897383(T;T) |
Reference | Rs61897383(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided not specified Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided not specified Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000011.9:g.47363612G>A; NC_000011.9:g.47363612G>T |
CLNSRC | |
CLNACC | RCV000158109.1, RCV000126902.2, RCV000290531.1, RCV000325205.1, RCV000382174.1, |