rs1057516915
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TATC;TATC) | 0 | common in clinvar |
Make rs1057516915(-;-) |
Make rs1057516915(-;TATC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 36246209 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs1057516915 |
dbSNP (classic) | rs1057516915 |
ClinGen | rs1057516915 |
ebi | rs1057516915 |
HLI | rs1057516915 |
Exac | rs1057516915 |
Gnomad | rs1057516915 |
Varsome | rs1057516915 |
LitVar | rs1057516915 |
Map | rs1057516915 |
PheGenI | rs1057516915 |
Biobank | rs1057516915 |
1000 genomes | rs1057516915 |
hgdp | rs1057516915 |
ensembl | rs1057516915 |
geneview | rs1057516915 |
scholar | rs1057516915 |
rs1057516915 | |
pharmgkb | rs1057516915 |
gwascentral | rs1057516915 |
openSNP | rs1057516915 |
23andMe | rs1057516915 |
SNPshot | rs1057516915 |
SNPdbe | rs1057516915 |
MSV3d | rs1057516915 |
GWAS Ctlg | rs1057516915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516915(-;-) |
Alt | rs1057516915(-;-) |
Reference | Rs1057516915(TATC;TATC) |
Significance | Probable-Pathogenic |
Disease | Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 |
Reversed | 1 |
HGVS | NC_000009.11:g.36246206_36246209delGATA |
CLNSRC | |
CLNACC | RCV000411234.1, |