rs121908627
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908627(A;A) |
Make rs121908627(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 36217448 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs121908627 |
dbSNP (classic) | rs121908627 |
ClinGen | rs121908627 |
ebi | rs121908627 |
HLI | rs121908627 |
Exac | rs121908627 |
Gnomad | rs121908627 |
Varsome | rs121908627 |
LitVar | rs121908627 |
Map | rs121908627 |
PheGenI | rs121908627 |
Biobank | rs121908627 |
1000 genomes | rs121908627 |
hgdp | rs121908627 |
ensembl | rs121908627 |
geneview | rs121908627 |
scholar | rs121908627 |
rs121908627 | |
pharmgkb | rs121908627 |
gwascentral | rs121908627 |
openSNP | rs121908627 |
23andMe | rs121908627 |
SNPshot | rs121908627 |
SNPdbe | rs121908627 |
MSV3d | rs121908627 |
GWAS Ctlg | rs121908627 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908627(A;A) rs121908627(T;T) |
Alt | rs121908627(A;A) rs121908627(T;T) |
Reference | Rs121908627(G;G) |
Significance | Other |
Disease | not specified Nonaka myopathy Sialuria Inclusion Body Myopathy not provided Inclusion body myopathy 2 |
Variation | info |
Gene | GNE |
CLNDBN | not specified Nonaka myopathy Sialuria Inclusion Body Myopathy, Recessive not provided Inclusion body myopathy 2 |
Reversed | 1 |
HGVS | NC_000009.11:g.36217445C>A; NC_000009.11:g.36217445C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000255396.2, RCV000277092.1, RCV000315879.1, RCV000372863.1, RCV000430334.1, RCV000006399.8, RCV000202424.2, RCV000255973.1, RCV000363110.1, RCV000477793.1, |