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rs1799999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 normal risk
(G;T)
(T;T) 3 insulin resistance
ReferenceGRCh38 38.1/141
Chromosome7
Position113878379
GenePPP1R3A
is asnp
is mentioned by
dbSNPrs1799999
ebirs1799999
HLIrs1799999
Exacrs1799999
Varsomers1799999
Maprs1799999
PheGenIrs1799999
hapmaprs1799999
1000 genomesrs1799999
hgdprs1799999
ensemblrs1799999
gopubmedrs1799999
geneviewrs1799999
scholarrs1799999
googlers1799999
pharmgkbrs1799999
gwascentralrs1799999
openSNPrs1799999
23andMers1799999
23andMe allrs1799999
SNP Nexus

SNPshotrs1799999
SNPdbers1799999
MSV3drs1799999
GWAS Ctlgrs1799999
GMAF0.2911
Max Magnitude3
? (G;G) (G;T) (T;T) 28
OMIM600917
DescINSULIN RESISTANCE, SUSCEPTIBILITY TO
Variant0001
Relatedalso
Neighborrs2974938
Distance68


ClinVar
Risk rs1799999(T;T)
Alt rs1799999(T;T)
Reference rs1799999(G;G)
Significance Other
Disease Insulin resistance
Variation info
Gene PPP1R3A
CLNDBN Insulin resistance, susceptibility to
Reversed 1
HGVS NC_000007.13:g.113518434C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009243.2,



[PMID 18853455OA-icon.png] Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.


GET Evidence
PPP1R3A-D905Y
aa_change Asp905Tyr
aa_change_short D905Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.134994
summary



[PMID 23133645OA-icon.png] The Interactive Effect of SIRT1 Promoter Region Polymorphism on Type 2 Diabetes Susceptibility in the North Indian Population