rs62541771
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62541771(A;A) |
Make rs62541771(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 36218224 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs62541771 |
dbSNP (classic) | rs62541771 |
ClinGen | rs62541771 |
ebi | rs62541771 |
HLI | rs62541771 |
Exac | rs62541771 |
Gnomad | rs62541771 |
Varsome | rs62541771 |
LitVar | rs62541771 |
Map | rs62541771 |
PheGenI | rs62541771 |
Biobank | rs62541771 |
1000 genomes | rs62541771 |
hgdp | rs62541771 |
ensembl | rs62541771 |
geneview | rs62541771 |
scholar | rs62541771 |
rs62541771 | |
pharmgkb | rs62541771 |
gwascentral | rs62541771 |
openSNP | rs62541771 |
23andMe | rs62541771 |
SNPshot | rs62541771 |
SNPdbe | rs62541771 |
MSV3d | rs62541771 |
GWAS Ctlg | rs62541771 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62541771(A;A) |
Alt | rs62541771(A;A) |
Reference | Rs62541771(G;G) |
Significance | Pathogenic |
Disease | Nonaka myopathy Inclusion body myopathy 2 not provided Sialuria |
Variation | info |
Gene | GNE |
CLNDBN | Nonaka myopathy Inclusion body myopathy 2 not provided Sialuria |
Reversed | 0 |
HGVS | NC_000009.11:g.36218221G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006406.6, RCV000174039.3, RCV000254883.1, RCV000265100.1, |