rs121908632
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908632(C;C) |
Make rs121908632(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 36219940 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs121908632 |
dbSNP (classic) | rs121908632 |
ClinGen | rs121908632 |
ebi | rs121908632 |
HLI | rs121908632 |
Exac | rs121908632 |
Gnomad | rs121908632 |
Varsome | rs121908632 |
LitVar | rs121908632 |
Map | rs121908632 |
PheGenI | rs121908632 |
Biobank | rs121908632 |
1000 genomes | rs121908632 |
hgdp | rs121908632 |
ensembl | rs121908632 |
geneview | rs121908632 |
scholar | rs121908632 |
rs121908632 | |
pharmgkb | rs121908632 |
gwascentral | rs121908632 |
openSNP | rs121908632 |
23andMe | rs121908632 |
SNPshot | rs121908632 |
SNPdbe | rs121908632 |
MSV3d | rs121908632 |
GWAS Ctlg | rs121908632 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908632(C;C) |
Alt | rs121908632(C;C) |
Reference | Rs121908632(G;G) |
Significance | Pathogenic |
Disease | Nonaka myopathy Inclusion body myopathy 2 Sialuria |
Variation | info |
Gene | GNE |
CLNDBN | Nonaka myopathy Inclusion body myopathy 2 Sialuria |
Reversed | 1 |
HGVS | NC_000009.11:g.36219937C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006404.7, RCV000173728.1, RCV000268972.1, |