rs116807569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs116807569(C;C) |
Make rs116807569(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 136674809 |
Gene | AGPAT2 |
is a | snp |
is | mentioned by |
dbSNP | rs116807569 |
dbSNP (classic) | rs116807569 |
ClinGen | rs116807569 |
ebi | rs116807569 |
HLI | rs116807569 |
Exac | rs116807569 |
Gnomad | rs116807569 |
Varsome | rs116807569 |
LitVar | rs116807569 |
Map | rs116807569 |
PheGenI | rs116807569 |
Biobank | rs116807569 |
1000 genomes | rs116807569 |
hgdp | rs116807569 |
ensembl | rs116807569 |
geneview | rs116807569 |
scholar | rs116807569 |
rs116807569 | |
pharmgkb | rs116807569 |
gwascentral | rs116807569 |
openSNP | rs116807569 |
23andMe | rs116807569 |
SNPshot | rs116807569 |
SNPdbe | rs116807569 |
MSV3d | rs116807569 |
GWAS Ctlg | rs116807569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116807569(C;C) |
Alt | rs116807569(C;C) |
Reference | Rs116807569(T;T) |
Significance | Pathogenic |
Disease | Congenital generalized lipodystrophy type 1 |
Variation | info |
Gene | AGPAT2 |
CLNDBN | Congenital generalized lipodystrophy type 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.139569261T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007004.3, |