TNNI3K, TNNI3 interacting kinase, 51086

N. diseases: 50; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231469
rs606231469
Entrez Id: 51086;100526835
Gene Symbol: TNNI3K;FPGT-TNNI3K
TNNI3K;FPGT-TNNI3K
CUI: C4015285
Disease:
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY 		0.800 GeneticVariation UNIPROT HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 21810866 2011
dbSNP: rs1040070
rs1040070
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0028754
Disease:
Obesity 		0.700 GeneticVariation GWASDB A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
dbSNP: rs1040070
rs1040070
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0578022
Disease:
Finding of body mass index 		0.700 GeneticVariation GWASDB Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. 23001569 2013
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0005893
Disease:
Body mass index procedure 		0.700 GeneticVariation GWASDB Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. 23001569 2013
dbSNP: rs201613442
rs201613442
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		0.700 GeneticVariation UNIPROT
dbSNP: rs7553158
rs7553158
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7553348
rs7553348
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B), rs987237 (TFAP2B), rs2867125 (TMEM18) and rs7138803 (FAIM2), were previously known obesity susceptibility loci, and the remaining four loci, rs1514175 (TNNI3K), rs206936 (NUDT3), rs4771122 (MTIF3) and rs2241423 (MAP2K5), were newly identified as BMI loci by the GIANT study. 22041983 2012
dbSNP: rs202238194
rs202238194
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). 30010057 2019
dbSNP: rs274609
rs274609
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C2362324
Disease:
Pediatric Obesity 		0.010 GeneticVariation BEFREE Six obesity-associated SNPs significantly departed from additive to dominant (N = 5) or recessive (N = 1) models, and a significant interaction was found between rs274609 (TNNI3K) and rs1010553 (ITIH4) on childhood obesity risk. 29769702 2019
dbSNP: rs606231469
rs606231469
Entrez Id: 51086;100526835
Gene Symbol: TNNI3K;FPGT-TNNI3K
TNNI3K;FPGT-TNNI3K
CUI: C4015285
Disease:
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs113313252
rs113313252
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0005893
Disease:
Body mass index procedure 		A 0.700 GeneticVariation GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs113313252
rs113313252
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0578022
Disease:
Finding of body mass index 		A 0.700 GeneticVariation GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs12042908
rs12042908
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs12142020
rs12142020
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0578022
Disease:
Finding of body mass index 		A 0.700 GeneticVariation GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs12142020
rs12142020
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0005893
Disease:
Body mass index procedure 		A 0.700 GeneticVariation GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs12566985
rs12566985
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0037369
Disease:
Smoking 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs12566985
rs12566985
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs12566985
rs12566985
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0005893
Disease:
Body mass index procedure 		A 0.700 GeneticVariation GWASDB Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0005893
Disease:
Body mass index procedure 		A 0.700 GeneticVariation GWASDB Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. 23669352 2013
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010
dbSNP: rs1514175
rs1514175
Entrez Id: 51086;100526835;105378803
Gene Symbol: TNNI3K;FPGT-TNNI3K;LRRC53
TNNI3K;FPGT-TNNI3K;LRRC53
CUI: C0578022
Disease:
Finding of body mass index 		A 0.700 GeneticVariation GWASDB Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. 20935630 2010