rs745517517
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs745517517(A;A) |
Make rs745517517(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 36246472 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs745517517 |
dbSNP (classic) | rs745517517 |
ClinGen | rs745517517 |
ebi | rs745517517 |
HLI | rs745517517 |
Exac | rs745517517 |
Gnomad | rs745517517 |
Varsome | rs745517517 |
LitVar | rs745517517 |
Map | rs745517517 |
PheGenI | rs745517517 |
Biobank | rs745517517 |
1000 genomes | rs745517517 |
hgdp | rs745517517 |
ensembl | rs745517517 |
geneview | rs745517517 |
scholar | rs745517517 |
rs745517517 | |
pharmgkb | rs745517517 |
gwascentral | rs745517517 |
openSNP | rs745517517 |
23andMe | rs745517517 |
SNPshot | rs745517517 |
SNPdbe | rs745517517 |
MSV3d | rs745517517 |
GWAS Ctlg | rs745517517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745517517(A;A) |
Alt | rs745517517(A;A) |
Reference | Rs745517517(G;G) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 0 |
HGVS | NC_000009.11:g.36246469G>A |
CLNSRC | |
CLNACC | RCV000294239.1, |