Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794729669
rs794729669
GRN
1 1.000 0.120 17 44350341 splice donor variant G/C snv 0.700 0
dbSNP: rs794729670
rs794729670
GRN
1 1.000 0.120 17 44351409 stop gained T/C;G snv 0.700 0
dbSNP: rs794729671
rs794729671
GRN
1 1.000 0.120 17 44352080 frameshift variant -/T delins 0.700 0
dbSNP: rs794729672
rs794729672
GRN
1 1.000 0.120 17 44349249 frameshift variant -/C delins 0.700 0
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 < 0.001 1 2016 2016
dbSNP: rs63750411
rs63750411
GRN
2 0.925 0.120 17 44349730 stop gained C/T snv 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs750312986
rs750312986
GRN
1 1.000 0.120 17 44351436 frameshift variant -/TG delins 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs981951447
rs981951447
RASA1
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.030 0.333 3 2012 2017
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2016
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.820 0.957 23 1998 2010
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.900 1.000 39 1998 2019
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.900 1.000 35 1998 2019
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.850 1.000 26 1998 2017
dbSNP: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.830 1.000 23 1998 2010
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.720 1.000 21 1998 2017
dbSNP: rs63750711
rs63750711
MAPT
2 0.925 0.120 17 46018645 missense variant A/T snv 0.810 1.000 21 1998 2010
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.800 1.000 20 1998 2005
dbSNP: rs661
rs661
PSEN1
6 0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1995 2017
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.800 1.000 12 2000 2019
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.900 1.000 12 1999 2019
dbSNP: rs63751011
rs63751011
MAPT
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 1.000 11 1998 2016
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017