Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17125721
PSEN1
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs572842823
APP
0.763 0.160 21 25897626 missense variant T/A;G snv 11
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 10
rs767543900
MAPT
0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 10
rs80356702
CLCN1
0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 9
rs63750577
PSEN1
0.827 0.120 14 73186881 missense variant C/T snv 8
rs63750852
PSEN1
0.790 0.120 14 73170998 missense variant G/A;T snv 8
rs775129479
SPSB3 ; IGFALS
0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 6
rs781587642
TUBA4A ; STK16
0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 6
rs281865071
CHRNB2
0.882 0.080 1 154571759 missense variant C/G;T snv 5
rs1397094538
ZNF436-AS1 ; ZNF436
0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 3
rs61748411
MECP2
0.925 0.120 X 154031356 missense variant T/C snv 3
rs536551654
NGFR ; LOC100288866
1.000 0.120 17 49511972 missense variant T/C snv 2
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs6277
DRD2
0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 36
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs3851179 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 15
rs744373 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 8
rs11142387 9 70383416 downstream gene variant A/C snv 0.49 7