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rs193929388

From SNPedia

Merged intors80356671
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929388(A;A)
Make rs193929388(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159898
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs193929388
ebirs193929388
HLIrs193929388
Exacrs193929388
Varsomers193929388
Maprs193929388
PheGenIrs193929388
hapmaprs193929388
1000 genomesrs193929388
hgdprs193929388
ensemblrs193929388
gopubmedrs193929388
geneviewrs193929388
scholarrs193929388
googlers193929388
pharmgkbrs193929388
gwascentralrs193929388
openSNPrs193929388
23andMers193929388
23andMe allrs193929388
SNP Nexus

SNPshotrs193929388
SNPdbers193929388
MSV3drs193929388
GWAS Ctlgrs193929388
StatusMerged into rs80356671
Max Magnitude0
ClinVar
Risk rs193929388(A;A)
Alt rs193929388(A;A)
Reference rs193929388(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2181128C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000034568.1,


[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.


[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.