rs587779391
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587779391(C;C) |
Make rs587779391(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23416134 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs587779391 |
dbSNP (classic) | rs587779391 |
ClinGen | rs587779391 |
ebi | rs587779391 |
HLI | rs587779391 |
Exac | rs587779391 |
Gnomad | rs587779391 |
Varsome | rs587779391 |
LitVar | rs587779391 |
Map | rs587779391 |
PheGenI | rs587779391 |
Biobank | rs587779391 |
1000 genomes | rs587779391 |
hgdp | rs587779391 |
ensembl | rs587779391 |
geneview | rs587779391 |
scholar | rs587779391 |
rs587779391 | |
pharmgkb | rs587779391 |
gwascentral | rs587779391 |
openSNP | rs587779391 |
23andMe | rs587779391 |
SNPshot | rs587779391 |
SNPdbe | rs587779391 |
MSV3d | rs587779391 |
GWAS Ctlg | rs587779391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779391(A;A) rs587779391(C;C) rs587779391(T;T) |
Alt | rs587779391(A;A) rs587779391(C;C) rs587779391(T;T) |
Reference | Rs587779391(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | Myopathy, distal, 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23885343C>G |
CLNSRC | |
CLNACC | RCV000132751.2, |