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rs193929385

From SNPedia

Merged intors80356668
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929385(G;G)
Make rs193929385(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160829
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs193929385
ebirs193929385
HLIrs193929385
Exacrs193929385
Varsomers193929385
Maprs193929385
PheGenIrs193929385
hapmaprs193929385
1000 genomesrs193929385
hgdprs193929385
ensemblrs193929385
gopubmedrs193929385
geneviewrs193929385
scholarrs193929385
googlers193929385
pharmgkbrs193929385
gwascentralrs193929385
openSNPrs193929385
23andMers193929385
23andMe allrs193929385
SNP Nexus

SNPshotrs193929385
SNPdbers193929385
MSV3drs193929385
GWAS Ctlgrs193929385
StatusMerged into rs80356668
Max Magnitude0
ClinVar
Risk rs193929385(G;G)
Alt rs193929385(G;G)
Reference rs193929385(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182059A>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000034570.1,


[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.