Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs763868966
GFAP
1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 4
rs767543900
MAPT
0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 10
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 42
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv 4
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 30
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs74315408
PRNP
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 16
rs536551654
NGFR ; LOC100288866
1.000 0.120 17 49511972 missense variant T/C snv 2
rs8074995
PRKCA
0.925 0.040 17 66796013 intron variant G/A snv 0.13 5
rs11142387 9 70383416 downstream gene variant A/C snv 0.49 7
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv 8
rs63750577
PSEN1
0.827 0.120 14 73186881 missense variant C/T snv 8
rs17125721
PSEN1
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs3851179 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 15
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv 59