Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 3
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs58332872
NEFL
0.882 0.080 8 24956248 missense variant C/T snv 5
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1424215334
SLC3A1
1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 3
rs200248046
SLC3A1
1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 3
rs1320457487
SLC3A1
1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 3
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 8
rs28933381
KCNA1
0.925 0.080 12 4912102 missense variant G/C snv 4
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs121918518
PRKCG
1.000 0.080 19 53889655 missense variant C/G snv 3
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4