Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554774973
rs1554774973
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		0.800 GeneticVariation UNIPROT Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935 2017
dbSNP: rs1554774973
rs1554774973
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		0.800 GeneticVariation UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs1554774973
rs1554774973
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		0.800 GeneticVariation UNIPROT A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
dbSNP: rs121434633
rs121434633
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121434633
rs121434633
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		0.800 GeneticVariation UNIPROT
dbSNP: rs1554774973
rs1554774973
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C4693367
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.800 GeneticVariation UNIPROT
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C4693367
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C4693367
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1187352
rs1187352
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1187352
rs1187352
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1573219
rs1573219
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.700 GeneticVariation GWASCAT Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. 31118516 2019
dbSNP: rs2291506
rs2291506
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1211166
rs1211166
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0005893
Disease:
Body mass index procedure 		0.700 GeneticVariation GWASDB At an array-wide significance (P < 2.40E-06), we identify novel BMI associations in loci translocase of outer mitochondrial membrane 40 homolog (yeast) - apolipoprotein E - apolipoprotein C-I (TOMM40-APOE-APOC1) (rs2075650, P = 2.95E-10), sterol regulatory element binding transcription factor 2 (SREBF2, rs5996074, P = 9.43E-07) and neurotrophic tyrosine kinase, receptor, type 2 [NTRK2, a brain-derived neurotrophic factor (BDNF) receptor gene, rs1211166, P = 1.04E-06] in the Phase IV meta-analysis. 23001569 2013
dbSNP: rs1211166
rs1211166
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
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: rs1085308029
rs1085308029
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C3151303
Disease:
Obesity, Hyperphagia, and Developmental Delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1324578301
rs1324578301
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0684249
Disease:
Carcinoma of lung 		0.700 GeneticVariation UNIPROT
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C4022761
Disease:
Reduced brain N-acetyl aspartate level by MRS 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C4476723
Disease:
Anti-multiple nuclear dots antibody positivity 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0018681
Disease:
Headache 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0240595
Disease:
Rotary Nystagmus 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0029124
Disease:
Optic Atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886041091
rs886041091
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
CUI: C0238651
Disease:
Ankle clonus 		G 0.700 GeneticVariation CLINVAR