rs397516260
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516260(A;A) |
Make rs397516260(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23431789 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516260 |
dbSNP (classic) | rs397516260 |
ClinGen | rs397516260 |
ebi | rs397516260 |
HLI | rs397516260 |
Exac | rs397516260 |
Gnomad | rs397516260 |
Varsome | rs397516260 |
LitVar | rs397516260 |
Map | rs397516260 |
PheGenI | rs397516260 |
Biobank | rs397516260 |
1000 genomes | rs397516260 |
hgdp | rs397516260 |
ensembl | rs397516260 |
geneview | rs397516260 |
scholar | rs397516260 |
rs397516260 | |
pharmgkb | rs397516260 |
gwascentral | rs397516260 |
openSNP | rs397516260 |
23andMe | rs397516260 |
SNPshot | rs397516260 |
SNPdbe | rs397516260 |
MSV3d | rs397516260 |
GWAS Ctlg | rs397516260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516260(A;A) rs397516260(T;T) |
Alt | rs397516260(A;A) rs397516260(T;T) |
Reference | Rs397516260(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Cardiomyopathy not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23900998C>A; NC_000014.8:g.23900998C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000154508.2, RCV000416304.1, RCV000035990.3, RCV000223767.1, |