Have questions? Visit https://www.reddit.com/r/SNPedia

rs116807569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116807569(C;C)
Make rs116807569(C;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position136674809
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs116807569
dbSNP (classic)rs116807569
ClinGenrs116807569
ebirs116807569
HLIrs116807569
Exacrs116807569
Gnomadrs116807569
Varsomers116807569
LitVarrs116807569
Maprs116807569
PheGenIrs116807569
Biobankrs116807569
1000 genomesrs116807569
hgdprs116807569
ensemblrs116807569
geneviewrs116807569
scholarrs116807569
googlers116807569
pharmgkbrs116807569
gwascentralrs116807569
openSNPrs116807569
23andMers116807569
SNPshotrs116807569
SNPdbers116807569
MSV3drs116807569
GWAS Ctlgrs116807569
Max Magnitude0
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,