rs748704459
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748704459(C;T) |
Make rs748704459(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 36246261 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs748704459 |
dbSNP (classic) | rs748704459 |
ClinGen | rs748704459 |
ebi | rs748704459 |
HLI | rs748704459 |
Exac | rs748704459 |
Gnomad | rs748704459 |
Varsome | rs748704459 |
LitVar | rs748704459 |
Map | rs748704459 |
PheGenI | rs748704459 |
Biobank | rs748704459 |
1000 genomes | rs748704459 |
hgdp | rs748704459 |
ensembl | rs748704459 |
geneview | rs748704459 |
scholar | rs748704459 |
rs748704459 | |
pharmgkb | rs748704459 |
gwascentral | rs748704459 |
openSNP | rs748704459 |
23andMe | rs748704459 |
SNPshot | rs748704459 |
SNPdbe | rs748704459 |
MSV3d | rs748704459 |
GWAS Ctlg | rs748704459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748704459(T;T) |
Alt | rs748704459(T;T) |
Reference | Rs748704459(C;C) |
Significance | Probable-Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.36246258C>T |
CLNSRC | |
CLNACC | RCV000169582.1, |