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rs72551364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551364(C;T)
Make rs72551364(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12433900
GenePPARG
is asnp
is mentioned by
dbSNPrs72551364
dbSNP (classic)rs72551364
ClinGenrs72551364
ebirs72551364
HLIrs72551364
Exacrs72551364
Gnomadrs72551364
Varsomers72551364
LitVarrs72551364
Maprs72551364
PheGenIrs72551364
Biobankrs72551364
1000 genomesrs72551364
hgdprs72551364
ensemblrs72551364
geneviewrs72551364
scholarrs72551364
googlers72551364
pharmgkbrs72551364
gwascentralrs72551364
openSNPrs72551364
23andMers72551364
SNPshotrs72551364
SNPdbers72551364
MSV3drs72551364
GWAS Ctlgrs72551364
Max Magnitude0
OMIM601487
Desc
Variant0013
Relatedalso


ClinVar
Risk rs72551364(T;T)
Alt rs72551364(T;T)
Reference Rs72551364(C;C)
Significance Pathogenic
Disease Familial partial lipodystrophy 3
Variation info
Gene PPARG
CLNDBN Familial partial lipodystrophy 3
Reversed 0
HGVS NC_000003.11:g.12475399C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008619.2,