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: rs63751287
rs63751287
PSEN1
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.800 1.000 3 2001 2018
dbSNP: rs63750886
rs63750886
PSEN1
5 0.851 0.080 14 73198072 missense variant C/G snv 0.800 1.000 1 2003 2003
dbSNP: rs63751144
rs63751144
PSEN1
1 1.000 0.080 14 73186892 missense variant C/A snv 0.800 0
dbSNP: rs63751272
rs63751272
PSEN1
1 1.000 0.080 14 73173587 missense variant A/C;T snv 0.800 0
dbSNP: rs63750155
rs63750155
PSEN1
1 1.000 0.080 14 73186904 missense variant T/C snv 0.700 1.000 24 1995 2018
dbSNP: rs63750227
rs63750227
PSEN1
1 1.000 0.080 14 73217221 missense variant G/A snv 7.0E-06 0.700 1.000 24 1995 2018
dbSNP: rs63750592
rs63750592
PSEN1
1 1.000 0.080 14 73170813 missense variant G/A snv 1.8E-04 2.9E-04 0.700 1.000 24 1995 2018
dbSNP: rs121917807
rs121917807
PSEN1
2 0.925 0.160 14 73198057 missense variant G/A snv 0.700 1.000 20 1995 2018
dbSNP: rs267606983
rs267606983
PSEN1
2 0.925 0.080 14 73192744 missense variant G/C snv 0.700 1.000 20 1995 2018
dbSNP: rs63749805
rs63749805
PSEN1
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.700 1.000 20 1995 2018
dbSNP: rs63749911
rs63749911
PSEN1
1 1.000 0.080 14 73186901 missense variant T/C snv 0.700 1.000 20 1995 2018
dbSNP: rs63749925
rs63749925
PSEN1
3 0.882 0.080 14 73219191 missense variant C/T snv 0.700 1.000 20 1995 2018
dbSNP: rs63749967
rs63749967
PSEN1
1 1.000 0.080 14 73170953 missense variant G/C snv 0.700 1.000 20 1995 2018
dbSNP: rs63749970
rs63749970
PSEN1
1 1.000 0.080 14 73192780 missense variant A/T snv 0.700 1.000 20 1995 2018
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.700 1.000 20 1995 2018
dbSNP: rs63750004
rs63750004
PSEN1
4 0.851 0.080 14 73173655 missense variant T/A;C snv 0.700 1.000 20 1995 2018
dbSNP: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.700 1.000 20 1995 2018
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.700 1.000 20 1995 2018
dbSNP: rs63750248
rs63750248
PSEN1
2 0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05 0.700 1.000 20 1995 2018
dbSNP: rs63750249
rs63750249
PSEN1
1 1.000 0.080 14 73219200 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 20 1995 2018
dbSNP: rs63750284
rs63750284
PSEN1
1 1.000 0.080 14 73198082 missense variant C/G snv 0.700 1.000 20 1995 2018
dbSNP: rs63750299
rs63750299
PSEN1
2 0.925 0.080 14 73186890 missense variant T/G snv 0.700 1.000 20 1995 2018
dbSNP: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 1.000 20 1995 2018
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.700 1.000 20 1995 2018
dbSNP: rs63750321
rs63750321
PSEN1
1 1.000 0.080 14 73171024 missense variant T/G snv 4.0E-06 0.700 1.000 20 1995 2018