rs794728991
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.5 | Myofibrillar Myopathy |
Make rs794728991(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 219425989 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs794728991 |
dbSNP (classic) | rs794728991 |
ClinGen | rs794728991 |
ebi | rs794728991 |
HLI | rs794728991 |
Exac | rs794728991 |
Gnomad | rs794728991 |
Varsome | rs794728991 |
LitVar | rs794728991 |
Map | rs794728991 |
PheGenI | rs794728991 |
Biobank | rs794728991 |
1000 genomes | rs794728991 |
hgdp | rs794728991 |
ensembl | rs794728991 |
geneview | rs794728991 |
scholar | rs794728991 |
rs794728991 | |
pharmgkb | rs794728991 |
gwascentral | rs794728991 |
openSNP | rs794728991 |
23andMe | rs794728991 |
SNPshot | rs794728991 |
SNPdbe | rs794728991 |
MSV3d | rs794728991 |
GWAS Ctlg | rs794728991 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs794728991(C;C) |
Alt | rs794728991(C;C) |
Reference | Rs794728991(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | DES LOC101928568 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.220290711A>C |
CLNSRC | |
CLNACC | RCV000183364.1, |