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rs80356662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356662(A;A)
Make rs80356662(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position27924381
GenePDX1
is asnp
is mentioned by
dbSNPrs80356662
ebirs80356662
HLIrs80356662
Exacrs80356662
Varsomers80356662
Maprs80356662
PheGenIrs80356662
hapmaprs80356662
1000 genomesrs80356662
hgdprs80356662
ensemblrs80356662
gopubmedrs80356662
geneviewrs80356662
scholarrs80356662
googlers80356662
pharmgkbrs80356662
gwascentralrs80356662
openSNPrs80356662
23andMers80356662
23andMe allrs80356662
SNP Nexus

SNPshotrs80356662
SNPdbers80356662
MSV3drs80356662
GWAS Ctlgrs80356662
Max Magnitude0
OMIM600733
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80356662(A;A)
Alt rs80356662(A;A)
Reference rs80356662(G;G)
Significance Pathogenic
Disease Pancreatic agenesis
Variation info
Gene PDX1
CLNDBN Pancreatic agenesis, congenital
Reversed 0
HGVS NC_000013.10:g.28498518G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020216.3,


[PMID 12970316] Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.