rs779694939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs779694939(A;G) |
Make rs779694939(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 36236954 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs779694939 |
dbSNP (classic) | rs779694939 |
ClinGen | rs779694939 |
ebi | rs779694939 |
HLI | rs779694939 |
Exac | rs779694939 |
Gnomad | rs779694939 |
Varsome | rs779694939 |
LitVar | rs779694939 |
Map | rs779694939 |
PheGenI | rs779694939 |
Biobank | rs779694939 |
1000 genomes | rs779694939 |
hgdp | rs779694939 |
ensembl | rs779694939 |
geneview | rs779694939 |
scholar | rs779694939 |
rs779694939 | |
pharmgkb | rs779694939 |
gwascentral | rs779694939 |
openSNP | rs779694939 |
23andMe | rs779694939 |
SNPshot | rs779694939 |
SNPdbe | rs779694939 |
MSV3d | rs779694939 |
GWAS Ctlg | rs779694939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779694939(G;G) |
Alt | rs779694939(G;G) |
Reference | Rs779694939(A;A) |
Significance | Pathogenic |
Disease | Nonaka myopathy not provided Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Nonaka myopathy not provided Inclusion body myopathy 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.36236951A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202427.1, RCV000255797.1, RCV000407674.1, |