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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs104894003
rs104894003
7 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs796065306
rs796065306
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs864309484
rs864309484
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11655081
rs11655081
7 0.851 0.080 17 68386068 intron variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs267606670
rs267606670
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs80356537
rs80356537
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2009 2015
dbSNP: rs146170087
rs146170087
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 1 2018 2018
dbSNP: rs397514477
rs397514477
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs515726205
rs515726205
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs398122845
rs398122845
2 1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs74315442
rs74315442
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs1131692231
rs1131692231
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs879253799
rs879253799
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs150321966
rs150321966
3 0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 0.700 0
dbSNP: rs754609693
rs754609693
3 0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 0.700 0