Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010930015
rs1010930015
TBK1
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT

dbSNP: rs1555202947
rs1555202947
TBK1
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 26513235

2015
dbSNP: rs1555202947
rs1555202947
TBK1
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. 22851595

2012
dbSNP: rs1555203557
rs1555203557
TBK1
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 26513235

2015
dbSNP: rs1555203557
rs1555203557
TBK1
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 GeneticVariation UNIPROT Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. 22851595

2012
dbSNP: rs1262765773
rs1262765773
TBK1
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 GeneticVariation UNIPROT

dbSNP: rs1366668789
rs1366668789
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 25943890

2015
dbSNP: rs1366668789
rs1366668789
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. 25803835

2015
dbSNP: rs201970436
rs201970436
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. 25803835

2015
dbSNP: rs201970436
rs201970436
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 25943890

2015
dbSNP: rs758357594
rs758357594
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT

dbSNP: rs765035140
rs765035140
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT

dbSNP: rs770942184
rs770942184
TBK1
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 GeneticVariation UNIPROT