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rs606231168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231168(C;C)
Make rs606231168(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position136676681
GeneAGPAT2
is asnp
is mentioned by
dbSNPrs606231168
dbSNP (classic)rs606231168
ClinGenrs606231168
ebirs606231168
HLIrs606231168
Exacrs606231168
Gnomadrs606231168
Varsomers606231168
LitVarrs606231168
Maprs606231168
PheGenIrs606231168
Biobankrs606231168
1000 genomesrs606231168
hgdprs606231168
ensemblrs606231168
geneviewrs606231168
scholarrs606231168
googlers606231168
pharmgkbrs606231168
gwascentralrs606231168
openSNPrs606231168
23andMers606231168
SNPshotrs606231168
SNPdbers606231168
MSV3drs606231168
GWAS Ctlgrs606231168
Max Magnitude0
ClinVar
Risk rs606231168(C;C)
Alt rs606231168(C;C)
Reference Rs606231168(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.139571133C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007009.3,