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rs193929380

From SNPedia

Merged intors80356663
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193929380(A;A)
Make rs193929380(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160901
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs193929380
ebirs193929380
HLIrs193929380
Exacrs193929380
Varsomers193929380
Maprs193929380
PheGenIrs193929380
hapmaprs193929380
1000 genomesrs193929380
hgdprs193929380
ensemblrs193929380
gopubmedrs193929380
geneviewrs193929380
scholarrs193929380
googlers193929380
pharmgkbrs193929380
gwascentralrs193929380
openSNPrs193929380
23andMers193929380
23andMe allrs193929380
SNP Nexus

SNPshotrs193929380
SNPdbers193929380
MSV3drs193929380
GWAS Ctlgrs193929380
StatusMerged into rs80356663
Max Magnitude0
ClinVar
Risk rs193929380(A;A)
Alt rs193929380(A;A)
Reference rs193929380(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182131G>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000034569.1,


[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.