Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922401
rs193922401
ABCC8
A 0.710 GeneticVariation CLINVAR

dbSNP: rs80356611
rs80356611
KCNJ11
T 0.710 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922396
rs193922396
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs193922397
rs193922397
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922399
rs193922399
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922400
rs193922400
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922403
rs193922403
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922406
rs193922406
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922407
rs193922407
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922408
rs193922408
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922565
rs193922565
KCNJ11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80356663
rs80356663
INS ; INS-IGF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193929375
rs193929375
GCK
0.010 GeneticVariation BEFREE We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. 15644838

2005
dbSNP: rs193929373
rs193929373
GCK ; LOC105375258
0.010 GeneticVariation BEFREE To investigate the prevalence and clinical characteristics of heterozygotes of the glucokinase gene mutations G264S and IVS8+2 in the extended pedigree of two patients with permanent neonatal diabetes as a result of glucokinase deficiency (IVS8+2 homozygosity and IVS8+2/G264S compound heterozygosity). 16026363

2005
dbSNP: rs80356624
rs80356624
KCNJ11
0.030 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688

2006
dbSNP: rs80356616
rs80356616
KCNJ11
0.020 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688

2006
dbSNP: rs80356618
rs80356618
KCNJ11
0.010 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688

2006
dbSNP: rs80356611
rs80356611
KCNJ11
0.710 GeneticVariation BEFREE We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems. 16731833

2006
dbSNP: rs1285524167
rs1285524167
ABCC8
0.020 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922

2006
dbSNP: rs80356616
rs80356616
KCNJ11
0.020 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922

2006
dbSNP: rs80356624
rs80356624
KCNJ11
0.030 GeneticVariation BEFREE This is consistent with the ability of the R201H mutation to cause neonatal diabetes in patients. 17065345

2006
dbSNP: rs193929355
rs193929355
KCNJ11
0.010 GeneticVariation BEFREE We assessed the functional effects of two Kir6.2 mutations associated with ND: K170T and E322K. 17919178

2007
dbSNP: rs193922401
rs193922401
ABCC8
0.710 GeneticVariation BEFREE Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. 18025464

2007
dbSNP: rs137852673
rs137852673
ABCC8
0.010 GeneticVariation BEFREE Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. 18025464

2007