rs886042120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | 9 |
Position | 36246042 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs886042120 |
dbSNP (classic) | rs886042120 |
ClinGen | rs886042120 |
ebi | rs886042120 |
HLI | rs886042120 |
Exac | rs886042120 |
Gnomad | rs886042120 |
Varsome | rs886042120 |
LitVar | rs886042120 |
Map | rs886042120 |
PheGenI | rs886042120 |
Biobank | rs886042120 |
1000 genomes | rs886042120 |
hgdp | rs886042120 |
ensembl | rs886042120 |
geneview | rs886042120 |
scholar | rs886042120 |
rs886042120 | |
pharmgkb | rs886042120 |
gwascentral | rs886042120 |
openSNP | rs886042120 |
23andMe | rs886042120 |
SNPshot | rs886042120 |
SNPdbe | rs886042120 |
MSV3d | rs886042120 |
GWAS Ctlg | rs886042120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042120(GAAT;GAAT) |
Alt | rs886042120(GAAT;GAAT) |
Reference | Rs886042120(-;-) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.36246039_36246040insGAAT |
CLNSRC | |
CLNACC | RCV000287676.1, |