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rs797045222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045222(A;A)
Make rs797045222(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136677047
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs797045222
dbSNP (classic)rs797045222
ClinGenrs797045222
ebirs797045222
HLIrs797045222
Exacrs797045222
Gnomadrs797045222
Varsomers797045222
LitVarrs797045222
Maprs797045222
PheGenIrs797045222
Biobankrs797045222
1000 genomesrs797045222
hgdprs797045222
ensemblrs797045222
geneviewrs797045222
scholarrs797045222
googlers797045222
pharmgkbrs797045222
gwascentralrs797045222
openSNPrs797045222
23andMers797045222
SNPshotrs797045222
SNPdbers797045222
MSV3drs797045222
GWAS Ctlgrs797045222
Max Magnitude0
ClinVar
Risk rs797045222(A;A)
Alt rs797045222(A;A)
Reference Rs797045222(G;G)
Significance Pathogenic
Disease Congenital generalized lipodystrophy type 1
Variation info
Gene AGPAT2
CLNDBN Congenital generalized lipodystrophy type 1
Reversed 1
HGVS NC_000009.11:g.139571499C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000193026.1,