rs730880770
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880770(A;A) |
Make rs730880770(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23422253 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs730880770 |
dbSNP (classic) | rs730880770 |
ClinGen | rs730880770 |
ebi | rs730880770 |
HLI | rs730880770 |
Exac | rs730880770 |
Gnomad | rs730880770 |
Varsome | rs730880770 |
LitVar | rs730880770 |
Map | rs730880770 |
PheGenI | rs730880770 |
Biobank | rs730880770 |
1000 genomes | rs730880770 |
hgdp | rs730880770 |
ensembl | rs730880770 |
geneview | rs730880770 |
scholar | rs730880770 |
rs730880770 | |
pharmgkb | rs730880770 |
gwascentral | rs730880770 |
openSNP | rs730880770 |
23andMe | rs730880770 |
SNPshot | rs730880770 |
SNPdbe | rs730880770 |
MSV3d | rs730880770 |
GWAS Ctlg | rs730880770 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880770(A;A) rs730880770(T;T) |
Alt | rs730880770(A;A) rs730880770(T;T) |
Reference | Rs730880770(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not provided Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23891462C>A; NC_000014.8:g.23891462C>T |
CLNSRC | |
CLNACC | RCV000158595.1, RCV000158594.1, RCV000470247.1, |