rs199877522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199877522(A;A) |
Make rs199877522(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 36227397 |
Gene | GNE |
is a | snp |
is | mentioned by |
dbSNP | rs199877522 |
dbSNP (classic) | rs199877522 |
ClinGen | rs199877522 |
ebi | rs199877522 |
HLI | rs199877522 |
Exac | rs199877522 |
Gnomad | rs199877522 |
Varsome | rs199877522 |
LitVar | rs199877522 |
Map | rs199877522 |
PheGenI | rs199877522 |
Biobank | rs199877522 |
1000 genomes | rs199877522 |
hgdp | rs199877522 |
ensembl | rs199877522 |
geneview | rs199877522 |
scholar | rs199877522 |
rs199877522 | |
pharmgkb | rs199877522 |
gwascentral | rs199877522 |
openSNP | rs199877522 |
23andMe | rs199877522 |
SNPshot | rs199877522 |
SNPdbe | rs199877522 |
MSV3d | rs199877522 |
GWAS Ctlg | rs199877522 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199877522(A;A) rs199877522(T;T) |
Alt | rs199877522(A;A) rs199877522(T;T) |
Reference | Rs199877522(C;C) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 2 not provided |
Variation | info |
Gene | GNE |
CLNDBN | Inclusion body myopathy 2 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.36227394C>A |
CLNSRC | |
CLNACC | RCV000405240.1, RCV000484722.1, |