rs794727279
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727279(C;T) |
Make rs794727279(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 36249370 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs794727279 |
dbSNP (classic) | rs794727279 |
ClinGen | rs794727279 |
ebi | rs794727279 |
HLI | rs794727279 |
Exac | rs794727279 |
Gnomad | rs794727279 |
Varsome | rs794727279 |
LitVar | rs794727279 |
Map | rs794727279 |
PheGenI | rs794727279 |
Biobank | rs794727279 |
1000 genomes | rs794727279 |
hgdp | rs794727279 |
ensembl | rs794727279 |
geneview | rs794727279 |
scholar | rs794727279 |
rs794727279 | |
pharmgkb | rs794727279 |
gwascentral | rs794727279 |
openSNP | rs794727279 |
23andMe | rs794727279 |
SNPshot | rs794727279 |
SNPdbe | rs794727279 |
MSV3d | rs794727279 |
GWAS Ctlg | rs794727279 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727279(T;T) |
Alt | rs794727279(T;T) |
Reference | Rs794727279(C;C) |
Significance | Pathogenic |
Disease | not specified Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | not specified Inclusion body myopathy 2 |
Reversed | 1 |
HGVS | NC_000009.11:g.36249367G>A |
CLNSRC | |
CLNACC | RCV000175805.1, RCV000383627.1, |