rs786204558
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204558(C;T) |
Make rs786204558(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 36223478 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs786204558 |
dbSNP (classic) | rs786204558 |
ClinGen | rs786204558 |
ebi | rs786204558 |
HLI | rs786204558 |
Exac | rs786204558 |
Gnomad | rs786204558 |
Varsome | rs786204558 |
LitVar | rs786204558 |
Map | rs786204558 |
PheGenI | rs786204558 |
Biobank | rs786204558 |
1000 genomes | rs786204558 |
hgdp | rs786204558 |
ensembl | rs786204558 |
geneview | rs786204558 |
scholar | rs786204558 |
rs786204558 | |
pharmgkb | rs786204558 |
gwascentral | rs786204558 |
openSNP | rs786204558 |
23andMe | rs786204558 |
SNPshot | rs786204558 |
SNPdbe | rs786204558 |
MSV3d | rs786204558 |
GWAS Ctlg | rs786204558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204558(T;T) |
Alt | rs786204558(T;T) |
Reference | Rs786204558(C;C) |
Significance | Probable-Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 1 |
HGVS | NC_000009.11:g.36223475G>A |
CLNSRC | |
CLNACC | RCV000169277.1, |