rs748949603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs748949603(A;G) |
Make rs748949603(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 36219894 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs748949603 |
dbSNP (classic) | rs748949603 |
ClinGen | rs748949603 |
ebi | rs748949603 |
HLI | rs748949603 |
Exac | rs748949603 |
Gnomad | rs748949603 |
Varsome | rs748949603 |
LitVar | rs748949603 |
Map | rs748949603 |
PheGenI | rs748949603 |
Biobank | rs748949603 |
1000 genomes | rs748949603 |
hgdp | rs748949603 |
ensembl | rs748949603 |
geneview | rs748949603 |
scholar | rs748949603 |
rs748949603 | |
pharmgkb | rs748949603 |
gwascentral | rs748949603 |
openSNP | rs748949603 |
23andMe | rs748949603 |
SNPshot | rs748949603 |
SNPdbe | rs748949603 |
MSV3d | rs748949603 |
GWAS Ctlg | rs748949603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748949603(G;G) |
Alt | rs748949603(G;G) |
Reference | Rs748949603(A;A) |
Significance | Other |
Disease | Inclusion body myopathy 2 Nonaka myopathy |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 Nonaka myopathy |
Reversed | 0 |
HGVS | NC_000009.11:g.36219891A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169236.2, RCV000366480.1, |