rs757523840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs757523840(C;C) |
Make rs757523840(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 36218272 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs757523840 |
dbSNP (classic) | rs757523840 |
ClinGen | rs757523840 |
ebi | rs757523840 |
HLI | rs757523840 |
Exac | rs757523840 |
Gnomad | rs757523840 |
Varsome | rs757523840 |
LitVar | rs757523840 |
Map | rs757523840 |
PheGenI | rs757523840 |
Biobank | rs757523840 |
1000 genomes | rs757523840 |
hgdp | rs757523840 |
ensembl | rs757523840 |
geneview | rs757523840 |
scholar | rs757523840 |
rs757523840 | |
pharmgkb | rs757523840 |
gwascentral | rs757523840 |
openSNP | rs757523840 |
23andMe | rs757523840 |
SNPshot | rs757523840 |
SNPdbe | rs757523840 |
MSV3d | rs757523840 |
GWAS Ctlg | rs757523840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757523840(C;C) |
Alt | rs757523840(C;C) |
Reference | Rs757523840(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.36218269G>C |
CLNSRC | |
CLNACC | RCV000270327.1, |