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: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.800 1.000 26 1995 2015
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 17 1995 2014
dbSNP: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.800 1.000 17 1995 2014
dbSNP: rs63750197
rs63750197
PSEN2
2 0.925 0.120 1 226885570 missense variant C/T snv 6.8E-04 7.2E-04 0.800 1.000 13 1995 2014
dbSNP: rs63749851
rs63749851
PSEN2
1 1.000 0.080 1 226885545 missense variant A/C snv 0.800 0
dbSNP: rs63749884
rs63749884
PSEN2
5 0.851 0.160 1 226888979 missense variant G/A snv 0.800 0
dbSNP: rs140501902
rs140501902
PSEN2
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.700 1.000 13 1995 2014
dbSNP: rs58973334
rs58973334
PSEN2
3 0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02 0.700 1.000 13 1995 2014
dbSNP: rs1553268799
rs1553268799
PSEN2
1 1.000 0.080 1 226890135 splice donor variant TGA/- del 0.700 1.000 3 2008 2014
dbSNP: rs61761208
rs61761208
PSEN2
3 0.882 0.080 1 226885602 missense variant A/T snv 0.700 0
dbSNP: rs63750048
rs63750048
PSEN2
2 0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs63750666
rs63750666
PSEN2
2 0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs63750812
rs63750812
PSEN2
2 0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05 0.700 0