rs397516157
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs397516157(C;C) |
Make rs397516157(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424893 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516157 |
dbSNP (classic) | rs397516157 |
ClinGen | rs397516157 |
ebi | rs397516157 |
HLI | rs397516157 |
Exac | rs397516157 |
Gnomad | rs397516157 |
Varsome | rs397516157 |
LitVar | rs397516157 |
Map | rs397516157 |
PheGenI | rs397516157 |
Biobank | rs397516157 |
1000 genomes | rs397516157 |
hgdp | rs397516157 |
ensembl | rs397516157 |
geneview | rs397516157 |
scholar | rs397516157 |
rs397516157 | |
pharmgkb | rs397516157 |
gwascentral | rs397516157 |
openSNP | rs397516157 |
23andMe | rs397516157 |
SNPshot | rs397516157 |
SNPdbe | rs397516157 |
MSV3d | rs397516157 |
GWAS Ctlg | rs397516157 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516157(A;A) rs397516157(C;C) |
Alt | rs397516157(A;A) rs397516157(C;C) |
Reference | Rs397516157(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 1 not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 1 not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23894102A>G; NC_000014.8:g.23894102A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000035805.2, RCV000201446.1, RCV000158847.2, |