rs797044599
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044599(C;C) |
Make rs797044599(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 23417541 |
Gene | MHRT, MIR208B, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs797044599 |
dbSNP (classic) | rs797044599 |
ClinGen | rs797044599 |
ebi | rs797044599 |
HLI | rs797044599 |
Exac | rs797044599 |
Gnomad | rs797044599 |
Varsome | rs797044599 |
LitVar | rs797044599 |
Map | rs797044599 |
PheGenI | rs797044599 |
Biobank | rs797044599 |
1000 genomes | rs797044599 |
hgdp | rs797044599 |
ensembl | rs797044599 |
geneview | rs797044599 |
scholar | rs797044599 |
rs797044599 | |
pharmgkb | rs797044599 |
gwascentral | rs797044599 |
openSNP | rs797044599 |
23andMe | rs797044599 |
SNPshot | rs797044599 |
SNPdbe | rs797044599 |
MSV3d | rs797044599 |
GWAS Ctlg | rs797044599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044599(C;C) |
Alt | rs797044599(C;C) |
Reference | Rs797044599(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | MYH7 MHRT MIR208B |
CLNDBN | Myopathy, distal, 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23886750C>G |
CLNSRC | |
CLNACC | RCV000192206.1, |