rs372872777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372872777(A;A) |
Make rs372872777(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 36246262 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs372872777 |
dbSNP (classic) | rs372872777 |
ClinGen | rs372872777 |
ebi | rs372872777 |
HLI | rs372872777 |
Exac | rs372872777 |
Gnomad | rs372872777 |
Varsome | rs372872777 |
LitVar | rs372872777 |
Map | rs372872777 |
PheGenI | rs372872777 |
Biobank | rs372872777 |
1000 genomes | rs372872777 |
hgdp | rs372872777 |
ensembl | rs372872777 |
geneview | rs372872777 |
scholar | rs372872777 |
rs372872777 | |
pharmgkb | rs372872777 |
gwascentral | rs372872777 |
openSNP | rs372872777 |
23andMe | rs372872777 |
SNPshot | rs372872777 |
SNPdbe | rs372872777 |
MSV3d | rs372872777 |
GWAS Ctlg | rs372872777 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372872777(A;A) |
Alt | rs372872777(A;A) |
Reference | Rs372872777(G;G) |
Significance | Probable-Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.36246259G>A |
CLNSRC | |
CLNACC | RCV000411076.1, |