rs121908832
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908832(A;G) |
Make rs121908832(G;G) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 11 |
Position | 822407 |
Gene | PNPLA2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908832 |
dbSNP (classic) | rs121908832 |
ClinGen | rs121908832 |
ebi | rs121908832 |
HLI | rs121908832 |
Exac | rs121908832 |
Gnomad | rs121908832 |
Varsome | rs121908832 |
LitVar | rs121908832 |
Map | rs121908832 |
PheGenI | rs121908832 |
Biobank | rs121908832 |
1000 genomes | rs121908832 |
hgdp | rs121908832 |
ensembl | rs121908832 |
geneview | rs121908832 |
scholar | rs121908832 |
rs121908832 | |
pharmgkb | rs121908832 |
gwascentral | rs121908832 |
openSNP | rs121908832 |
23andMe | rs121908832 |
SNPshot | rs121908832 |
SNPdbe | rs121908832 |
MSV3d | rs121908832 |
GWAS Ctlg | rs121908832 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908832(G;G) |
Alt | rs121908832(G;G) |
Reference | Rs121908832(A;A) |
Significance | Pathogenic |
Disease | Neutral lipid storage disease with myopathy |
Variation | info |
Gene | PNPLA2 |
CLNDBN | Neutral lipid storage disease with myopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.822407A>G |
CLNSRC | |
CLNACC |