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rs137852783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs137852783(A;A)
Make rs137852783(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position27920364
GenePDX1
is asnp
is mentioned by
dbSNPrs137852783
ebirs137852783
HLIrs137852783
Exacrs137852783
Varsomers137852783
Maprs137852783
PheGenIrs137852783
hapmaprs137852783
1000 genomesrs137852783
hgdprs137852783
ensemblrs137852783
gopubmedrs137852783
geneviewrs137852783
scholarrs137852783
googlers137852783
pharmgkbrs137852783
gwascentralrs137852783
openSNPrs137852783
23andMers137852783
23andMe allrs137852783
SNP Nexus

SNPshotrs137852783
SNPdbers137852783
MSV3drs137852783
GWAS Ctlgrs137852783
Max Magnitude0
OMIM600733
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852783(A;A)
Alt rs137852783(A;A)
Reference rs137852783(G;G)
Significance Other
Disease DIABETES MELLITUS Maturity-onset diabetes of the young
Variation info
Gene PDX1-AS1 PDX1
CLNDBN DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO Maturity-onset diabetes of the young, type 4
Reversed 0
HGVS NC_000013.10:g.28494501G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009409.3, RCV000030077.2,


[PMID 11270OA-icon.png] Active H+ transport in the turtle urinary bladder. Coupling of transport to glucose oxidation.


[PMID 10545530OA-icon.png] Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.


[PMID 10545531OA-icon.png] Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.


[PMID 10720084] Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.


[PMID 11022198] Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.


[PMID 15170499] Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes.