Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10509125
rs10509125
ANK3
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 GeneticVariation GWASCAT Genome-wide association study of behavioural and psychiatric features in human prion disease. 25897833

2015
dbSNP: rs1060499679
rs1060499679
GNPTAB
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs112543062
rs112543062
GNPTAB
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs142441643
rs142441643
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 28384794

2017
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 23612575

2014
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010
dbSNP: rs1553510492
rs1553510492
TBR1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554121671
rs1554121671
SYNGAP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		TGAAG 0.700 GeneticVariation CLINVAR

dbSNP: rs1554776954
rs1554776954
STXBP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555103646
rs1555103646
GRIN2B
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555103652
rs1555103652
GRIN2B
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561515242
rs1561515242
CAMK4
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR

dbSNP: rs267606959
rs267606959
POLG
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011
dbSNP: rs267606959
rs267606959
POLG
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs370717845
rs370717845
HGSNAT
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs72653772
rs72653772
ABCC6
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80359636
rs80359636
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. 23628597

2013
dbSNP: rs80359636
rs80359636
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Risk of breast cancer in male BRCA2 carriers. 20587410

2010
dbSNP: rs80359636
rs80359636
BRCA2
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		T 0.700 CausalMutation CLINVAR Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. 19188187

2009