Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555202947
rs1555202947
TBK1
1.000 0.040 12 64467018 missense variant G/C snv
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 1.000 2 2012 2015
dbSNP: rs1555203557
rs1555203557
TBK1
12 64474308 missense variant A/G snv
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 1.000 2 2012 2015
dbSNP: rs1010930015
rs1010930015
TBK1
1.000 0.040 12 64460250 missense variant A/C snv 4.2E-06
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 0
dbSNP: rs1366668789
rs1366668789
TBK1
1.000 12 64464419 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 1.000 2 2015 2015
dbSNP: rs201970436
rs201970436
TBK1
1.000 12 64481945 missense variant C/A snv 3.1E-04 1.7E-04
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 1.000 2 2015 2015
dbSNP: rs1262765773
rs1262765773
TBK1
1.000 0.080 12 64485493 missense variant G/A snv 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs758357594
rs758357594
TBK1
1.000 12 64484380 missense variant G/A snv 2.0E-05
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 0
dbSNP: rs765035140
rs765035140
TBK1
1.000 12 64495767 missense variant C/T snv
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 0
dbSNP: rs770942184
rs770942184
TBK1
1.000 12 64481943 missense variant T/C snv 2.0E-05
CUI: C4225325
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 		0.700 0