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: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 11 1998 2016
dbSNP: rs242557
rs242557
MAPT
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.860 1.000 8 2010 2019
dbSNP: rs242557
rs242557
MAPT
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.060 1.000 6 2010 2017
dbSNP: rs242557
rs242557
MAPT
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 0.833 6 2008 2017
dbSNP: rs8070723
rs8070723
MAPT
0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.800 1.000 5 2009 2014
dbSNP: rs17563986
rs17563986
MAPT
1.000 0.040 17 45913906 intron variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 4 2009 2014
dbSNP: rs17649553
rs17649553
MAPT
0.882 0.160 17 45917282 intron variant C/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.720 1.000 4 2014 2019
dbSNP: rs242557
rs242557
MAPT
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		0.030 1.000 3 2011 2017
dbSNP: rs2471738
rs2471738
MAPT ; STH
0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2009 2017
dbSNP: rs242562
rs242562
MAPT
1.000 0.040 17 45949373 intron variant G/A snv 0.35
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 0.500 2 2009 2014
dbSNP: rs2471738
rs2471738
MAPT ; STH
0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 2 2018 2018
dbSNP: rs8070723
rs8070723
MAPT
0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.810 1.000 2 2011 2016
dbSNP: rs10445338
rs10445338
MAPT
1.000 0.040 17 45990316 intron variant G/A snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 1 2012 2012
dbSNP: rs10445338
rs10445338
MAPT
1.000 0.040 17 45990316 intron variant G/A snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10445371
rs10445371
MAPT
0.925 0.120 17 45988044 intron variant G/A snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10445371
rs10445371
MAPT
0.925 0.120 17 45988044 intron variant G/A snv 0.15
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.700 1.000 1 2012 2012
dbSNP: rs10445371
rs10445371
MAPT
0.925 0.120 17 45988044 intron variant G/A snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
MAPT ; STH
0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
MAPT ; STH
0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
MAPT ; STH
0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs111972148
rs111972148
MAPT ; MAPT-AS1 ; MAPT-IT1
1.000 0.080 17 45895755 intron variant G/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs112385572
rs112385572
MAPT
1.000 0.080 17 45988806 intron variant A/G snv 0.15
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2017 2017
dbSNP: rs12150104
rs12150104
MAPT ; LOC105371800
17 45938563 intron variant G/A snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12150111
rs12150111
MAPT ; LOC105371800
1.000 0.080 17 45936572 intron variant A/G snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs12150111
rs12150111
MAPT ; LOC105371800
1.000 0.080 17 45936572 intron variant A/G snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012