rs587777870
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs587777870(AA;AA) |
Make rs587777870(AA;GC) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 73916584 |
Gene | ACTG2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777870 |
dbSNP (classic) | rs587777870 |
ClinGen | rs587777870 |
ebi | rs587777870 |
HLI | rs587777870 |
Exac | rs587777870 |
Gnomad | rs587777870 |
Varsome | rs587777870 |
LitVar | rs587777870 |
Map | rs587777870 |
PheGenI | rs587777870 |
Biobank | rs587777870 |
1000 genomes | rs587777870 |
hgdp | rs587777870 |
ensembl | rs587777870 |
geneview | rs587777870 |
scholar | rs587777870 |
rs587777870 | |
pharmgkb | rs587777870 |
gwascentral | rs587777870 |
openSNP | rs587777870 |
23andMe | rs587777870 |
SNPshot | rs587777870 |
SNPdbe | rs587777870 |
MSV3d | rs587777870 |
GWAS Ctlg | rs587777870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777870(AA;AA) |
Alt | rs587777870(AA;AA) |
Reference | Rs587777870(GC;GC) |
Significance | Pathogenic |
Disease | Visceral myopathy |
Variation | info |
Gene | ACTG2 |
CLNDBN | Visceral myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.74143711_74143712delGCinsAA |
CLNSRC | ClinVar |
CLNACC | RCV000144704.1, |