rs121908630
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908630(A;A) |
Make rs121908630(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 36236928 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs121908630 |
dbSNP (classic) | rs121908630 |
ClinGen | rs121908630 |
ebi | rs121908630 |
HLI | rs121908630 |
Exac | rs121908630 |
Gnomad | rs121908630 |
Varsome | rs121908630 |
LitVar | rs121908630 |
Map | rs121908630 |
PheGenI | rs121908630 |
Biobank | rs121908630 |
1000 genomes | rs121908630 |
hgdp | rs121908630 |
ensembl | rs121908630 |
geneview | rs121908630 |
scholar | rs121908630 |
rs121908630 | |
pharmgkb | rs121908630 |
gwascentral | rs121908630 |
openSNP | rs121908630 |
23andMe | rs121908630 |
SNPshot | rs121908630 |
SNPdbe | rs121908630 |
MSV3d | rs121908630 |
GWAS Ctlg | rs121908630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908630(A;A) |
Alt | rs121908630(A;A) |
Reference | Rs121908630(G;G) |
Significance | Pathogenic |
Disease | Nonaka myopathy |
Variation | info |
Gene | GNE |
CLNDBN | Nonaka myopathy |
Reversed | 1 |
HGVS | NC_000009.11:g.36236925C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006402.4, |