Source: ALL

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: rs547116051
rs547116051
MAPT
1.000 0.040 17 45980520 intron variant -/C ins
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.700 1.000 1 2019 2019
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.720 1.000 21 1998 2017
dbSNP: rs63750129
rs63750129
MAPT
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.820 1.000 6 1999 2008
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.020 1.000 2 2001 2017
dbSNP: rs17564983
rs17564983
MAPT ; LOC105371800
1.000 0.040 17 45934459 intron variant A/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 1 2011 2011
dbSNP: rs17564983
rs17564983
MAPT ; LOC105371800
1.000 0.040 17 45934459 intron variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17573593
rs17573593
MAPT
17 46005237 intron variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17574040
rs17574040
MAPT
1.000 0.080 17 46025499 3 prime UTR variant A/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs17574040
rs17574040
MAPT
1.000 0.080 17 46025499 3 prime UTR variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1984937
rs1984937
MAPT
17 45903164 intron variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2158257
rs2158257
MAPT ; KANSL1
1.000 0.080 17 46026977 3 prime UTR variant A/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs2158257
rs2158257
MAPT ; KANSL1
1.000 0.080 17 46026977 3 prime UTR variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs552965964
rs552965964
MAPT
1.000 0.080 17 45987393 intron variant A/C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs552965964
rs552965964
MAPT
1.000 0.080 17 45987393 intron variant A/C snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.700 1.000 1 2012 2012
dbSNP: rs63750129
rs63750129
MAPT
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2008 2008
dbSNP: rs63750129
rs63750129
MAPT
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs63750129
rs63750129
MAPT
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.010 1.000 1 2000 2000
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2017 2017
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease 		0.010 1.000 1 2002 2002
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 1.000 1 2001 2001
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.010 1.000 1 2017 2017
dbSNP: rs75666751
rs75666751
MAPT
1.000 0.080 17 46012782 intron variant A/C snv 0.18
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs77266933
rs77266933
MAPT
1.000 0.080 17 45949124 intron variant A/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs777148159
rs777148159
MAPT
1.000 0.040 17 46024073 missense variant A/C snv 1.2E-05
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		0.010 1.000 1 2014 2014