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rs193929381

From SNPedia

Merged intors80356664
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929381(A;A)
Make rs193929381(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160878
GeneINS, SIT1
is asnp
is mentioned by
dbSNPrs193929381
ebirs193929381
HLIrs193929381
Exacrs193929381
Varsomers193929381
Maprs193929381
PheGenIrs193929381
hapmaprs193929381
1000 genomesrs193929381
hgdprs193929381
ensemblrs193929381
gopubmedrs193929381
geneviewrs193929381
scholarrs193929381
googlers193929381
pharmgkbrs193929381
gwascentralrs193929381
openSNPrs193929381
23andMers193929381
23andMe allrs193929381
SNP Nexus

SNPshotrs193929381
SNPdbers193929381
MSV3drs193929381
GWAS Ctlgrs193929381
StatusMerged into rs80356664
Max Magnitude0
ClinVar
Risk rs193929381(A;A)
Alt rs193929381(A;A)
Reference rs193929381(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182108C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000034565.1,


[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.