rs587777383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777383(A;A) |
Make rs587777383(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 73909130 |
Gene | ACTG2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777383 |
dbSNP (classic) | rs587777383 |
ClinGen | rs587777383 |
ebi | rs587777383 |
HLI | rs587777383 |
Exac | rs587777383 |
Gnomad | rs587777383 |
Varsome | rs587777383 |
LitVar | rs587777383 |
Map | rs587777383 |
PheGenI | rs587777383 |
Biobank | rs587777383 |
1000 genomes | rs587777383 |
hgdp | rs587777383 |
ensembl | rs587777383 |
geneview | rs587777383 |
scholar | rs587777383 |
rs587777383 | |
pharmgkb | rs587777383 |
gwascentral | rs587777383 |
openSNP | rs587777383 |
23andMe | rs587777383 |
SNPshot | rs587777383 |
SNPdbe | rs587777383 |
MSV3d | rs587777383 |
GWAS Ctlg | rs587777383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777383(A;A) |
Alt | rs587777383(A;A) |
Reference | Rs587777383(C;C) |
Significance | Pathogenic |
Disease | Visceral myopathy Chronic intestinal pseudoobstruction |
Variation | info |
Gene | ACTG2 |
CLNDBN | Visceral myopathy Chronic intestinal pseudoobstruction |
Reversed | 0 |
HGVS | NC_000002.11:g.74136257C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119266.2, RCV000210361.1, |