Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367814475
rs367814475
IVD
T 0.700 CausalMutation CLINVAR

dbSNP: rs745343884
rs745343884
BTD
0.010 GeneticVariation BEFREE Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. 29353266

2018
dbSNP: rs1014048269
rs1014048269
OXCT1
0.010 GeneticVariation BEFREE Over 5 years (2008-2012), we investigated several patients that presented with severe ketoacidosis and identified a heterozygous OXCT1 mutation in four of these cases (Case1 p.R281C, Case2 p.T435N, Case3 p.W213*, Case4 c.493delG). 28695376

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.010 GeneticVariation BEFREE Preserved proinsulin production in homozygous protein tyrosine phosphatase nonreceptor type 22 C1858T variant type 1 diabetes: a possible explanation for absence of overt ketoacidosis despite omission of exogenous insulin. 23337153

2014
dbSNP: rs758604661
rs758604661
ABCC8
0.010 GeneticVariation BEFREE We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing neonatal diabetes mellitus.He died of ketoacidosis. 24941889

2014
dbSNP: rs587777042
rs587777042
CYC1
0.010 GeneticVariation BEFREE Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. 23910460

2013
dbSNP: rs16944
rs16944
IL1B
0.010 GeneticVariation BEFREE Significant differences in response to induced ketosis were found among non-carriers of putative gain-of-function polymorphisms in rs1143627 and rs16944 in the IL1B gene and among variants of the polymorphism rs2251101 in the IDE gene. 21992747

2011
dbSNP: rs2251101
rs2251101
IDE
0.010 GeneticVariation BEFREE Significant differences in response to induced ketosis were found among non-carriers of putative gain-of-function polymorphisms in rs1143627 and rs16944 in the IL1B gene and among variants of the polymorphism rs2251101 in the IDE gene. 21992747

2011
dbSNP: rs80356624
rs80356624
KCNJ11
0.010 GeneticVariation BEFREE The R201H mutation was identified in a patient who developed hyperglycemia and ketoacidosis at the age of 40 d and was successfully transferred to sulphonylureas which activate the channel through an ATP independent route. 21352428

2011
dbSNP: rs7214136
rs7214136
SREBF1
0.010 GeneticVariation BEFREE The polymorphism Arg585Gln in the gene of the sterol regulatory element binding protein-1 (SREBP-1) is not a determinant of ketosis prone type 2 diabetes (KPD) in Africans. 19062325

2009
dbSNP: rs121908261
rs121908261
INS ; INS-IGF2
0.010 GeneticVariation BEFREE Her mother had a de novo R55C mutation and was diagnosed with k</span>etoacidosis</span> and insulin-dependent diabetes at 13 years of age.Both had residual beta-cell function. 18192540

2008