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: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1555642784
rs1555642784
CNTNAP1
5 0.851 0.160 17 42688979 frameshift variant -/C delins 0.700 0
dbSNP: rs1555706928
rs1555706928
SETBP1
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs672601366
rs672601366
KIF1A
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs749203329
rs749203329
MLLT1
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs80338700
rs80338700
PMM2
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs864309505
rs864309505
TPP1
10 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
dbSNP: rs878853322
rs878853322
PPT1
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878853323
rs878853323
PPT1
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
PPT1
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs908867
rs908867 		7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1133174
rs1133174
SORL1
3 0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs1193124736
rs1193124736
APP
4 0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2298813
rs2298813
SORL1
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4935774
rs4935774
SORL1 ; LOC105369536
2 0.925 0.080 11 121451045 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014