Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 4
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv 3
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 11
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs118204095
HMBS
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 3
rs118204096
HMBS
1.000 0.160 11 119091432 missense variant G/A snv 3
rs119456965
SIL1
1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 3
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 7
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 9
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 12
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 5
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs121918514
PRKCG
0.925 0.080 19 53889705 missense variant G/A snv 4
rs121918518
PRKCG
1.000 0.080 19 53889655 missense variant C/G snv 3
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4