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: rs1561901881
rs1561901881
CSF1R
1 1.000 0.080 5 150054414 missense variant C/G snv 0.700 0
dbSNP: rs1561905293
rs1561905293
CSF1R
1 1.000 0.080 5 150056335 missense variant G/A snv 0.700 0
dbSNP: rs1566630910
rs1566630910
PSEN1
1 1.000 0.080 14 73173651 missense variant G/A snv 0.700 0
dbSNP: rs1566638673
rs1566638673
PSEN1
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs1566656702
rs1566656702
PSEN1
1 1.000 0.080 14 73217173 missense variant G/T snv 0.700 0
dbSNP: rs1566657804
rs1566657804
PSEN1
1 1.000 0.080 14 73219182 missense variant C/T snv 0.700 0
dbSNP: rs1567885728
rs1567885728
GRN
1 1.000 0.080 17 44349552 splice donor variant G/A snv 0.700 0
dbSNP: rs1568339995
rs1568339995
MAPT
1 1.000 0.080 17 46018704 missense variant C/T snv 0.700 0
dbSNP: rs377498269
rs377498269
SORL1
1 1.000 0.080 11 121558698 missense variant A/G snv 4.0E-05 4.2E-05 0.700 0
dbSNP: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.700 0
dbSNP: rs63750219
rs63750219
PSEN1
1 1.000 0.080 14 73206385 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs747306346
rs747306346
SORL1
1 1.000 0.080 11 121589385 missense variant A/G snv 6.8E-05 5.6E-05 0.700 0
dbSNP: rs866101707
rs866101707
VCP
1 1.000 0.080 9 35066711 missense variant G/A snv 0.700 0
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs778936527
rs778936527
PSEN2
2 0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs63750353
rs63750353
PSEN1
2 0.925 0.080 14 73173630 missense variant A/G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1191863771
rs1191863771
APP
3 0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs63749885
rs63749885
PSEN1
3 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs63750646
rs63750646
PSEN1
6 0.807 0.120 14 73217147 missense variant G/C snv 0.020 1.000 2 1999 1999
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 1998 2000
dbSNP: rs1412095491
rs1412095491
APP
3 0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs4934
rs4934
SERPINA3
2 0.925 0.120 14 94614466 missense variant G/A;C snv 0.45 0.010 1.000 1 2000 2000
dbSNP: rs538662666
rs538662666
SERPINA3
1 1.000 0.080 14 94614480 synonymous variant G/A snv 5.6E-05 1.4E-05 0.010 1.000 1 2000 2000