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rs121909244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909244(C;T)
Make rs121909244(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12434111
GenePPARG
is asnp
is mentioned by
dbSNPrs121909244
dbSNP (classic)rs121909244
ClinGenrs121909244
ebirs121909244
HLIrs121909244
Exacrs121909244
Gnomadrs121909244
Varsomers121909244
LitVarrs121909244
Maprs121909244
PheGenIrs121909244
Biobankrs121909244
1000 genomesrs121909244
hgdprs121909244
ensemblrs121909244
geneviewrs121909244
scholarrs121909244
googlers121909244
pharmgkbrs121909244
gwascentralrs121909244
openSNPrs121909244
23andMers121909244
SNPshotrs121909244
SNPdbers121909244
MSV3drs121909244
GWAS Ctlgrs121909244
Max Magnitude0

aka c.1484C>T (p.Pro495Leu or P495L)

OMIM601487
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909244(T;T)
Alt rs121909244(T;T)
Reference Rs121909244(C;C)
Significance Pathogenic
Disease Familial partial lipodystrophy 3 Diabetes Mellitus Familial partial lipodystrophy Obesity
Variation info
Gene PPARG
CLNDBN Familial partial lipodystrophy 3 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Familial partial lipodystrophy Obesity
Reversed 0
HGVS NC_000003.11:g.12475610C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008612.3, RCV000288354.1, RCV000343316.1, RCV000382908.1,