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: rs1567886206
rs1567886206
GRN
1 1.000 0.120 17 44350262 frameshift variant -/A delins 0.700 0
dbSNP: rs1567887015
rs1567887015
GRN
1 1.000 0.120 17 44351102 frameshift variant -/A delins 0.700 0
dbSNP: rs794729672
rs794729672
GRN
1 1.000 0.120 17 44349249 frameshift variant -/C delins 0.700 0
dbSNP: rs1254158201
rs1254158201
SQSTM1 ; MRNIP
1 1.000 0.120 5 179836453 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1567885658
rs1567885658
GRN
1 1.000 0.120 17 44349518 frameshift variant -/T delins 0.700 0
dbSNP: rs794729671
rs794729671
GRN
1 1.000 0.120 17 44352080 frameshift variant -/T delins 0.700 0
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: rs1567886445
rs1567886445
GRN
1 1.000 0.120 17 44350501 stop gained -/TGTGAAGACAGGGTGCACTGCTGTC ins 0.700 0
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.720 1.000 21 1998 2017
dbSNP: rs63750129
rs63750129
MAPT
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
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: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs63750450
rs63750450
PSEN1
4 0.851 0.120 14 73173571 missense variant A/G snv 0.700 1.000 4 1998 2017
dbSNP: rs63751278
rs63751278
PSEN1
6 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
dbSNP: rs778264897
rs778264897
CCNF
2 0.925 0.120 16 2455540 missense variant A/G snv 3.2E-05 7.0E-05 0.020 1.000 2 2017 2018
dbSNP: rs13393316
rs13393316
NDUFS1
1 1.000 0.120 2 206134615 intron variant A/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1399104933
rs1399104933
RRM1
2 0.925 0.120 11 4111950 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs1816
rs1816
KANSL1
3 0.882 0.200 17 46199252 intron variant A/G snv 0.14 0.010 1.000 1 2002 2002
dbSNP: rs2234256
rs2234256
TREM2 ; TREML1 ; LOC105375056
3 0.882 0.120 6 41158917 missense variant A/G snv 1.8E-02 4.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs538622
rs538622
ERGIC1
2 0.925 0.120 5 172920676 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs63750573
rs63750573
MAPT
3 0.882 0.120 17 46018627 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs773403329
rs773403329
SLCO6A1
2 0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019