rs762106720
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762106720(A;A) |
Make rs762106720(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 36234073 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs762106720 |
dbSNP (classic) | rs762106720 |
ClinGen | rs762106720 |
ebi | rs762106720 |
HLI | rs762106720 |
Exac | rs762106720 |
Gnomad | rs762106720 |
Varsome | rs762106720 |
LitVar | rs762106720 |
Map | rs762106720 |
PheGenI | rs762106720 |
Biobank | rs762106720 |
1000 genomes | rs762106720 |
hgdp | rs762106720 |
ensembl | rs762106720 |
geneview | rs762106720 |
scholar | rs762106720 |
rs762106720 | |
pharmgkb | rs762106720 |
gwascentral | rs762106720 |
openSNP | rs762106720 |
23andMe | rs762106720 |
SNPshot | rs762106720 |
SNPdbe | rs762106720 |
MSV3d | rs762106720 |
GWAS Ctlg | rs762106720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762106720(A;A) |
Alt | rs762106720(A;A) |
Reference | Rs762106720(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.36234070G>A |
CLNSRC | |
CLNACC | RCV000169197.1, |