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rs193929377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193929377(-;-)
Make rs193929377(-;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position27920326
GenePDX1, PDX1-AS1
is asnp
is mentioned by
dbSNPrs193929377
dbSNP (classic)rs193929377
ClinGenrs193929377
ebirs193929377
HLIrs193929377
Exacrs193929377
Gnomadrs193929377
Varsomers193929377
LitVarrs193929377
Maprs193929377
PheGenIrs193929377
Biobankrs193929377
1000 genomesrs193929377
hgdprs193929377
ensemblrs193929377
geneviewrs193929377
scholarrs193929377
googlers193929377
pharmgkbrs193929377
gwascentralrs193929377
openSNPrs193929377
23andMers193929377
SNPshotrs193929377
SNPdbers193929377
MSV3drs193929377
GWAS Ctlgrs193929377
Max Magnitude0
ClinVar
Risk rs193929377(-;-)
Alt rs193929377(-;-)
Reference Rs193929377(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene PDX1-AS1 PDX1
CLNDBN Permanent neonatal diabetes mellitus
Reversed 0
HGVS NC_000013.10:g.28494463delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020214.2,


[PMID 9326926] Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.