Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 30
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 11
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs797045032
CLCN1
0.827 0.280 7 143321720 missense variant GG/TC mnv 8
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 4
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 3
rs28933383
KCNA1
0.851 0.120 12 4912055 missense variant C/A;G;T snv 2
rs199474750
NF1
1.000 0.120 17 31258502 missense variant G/A;C;T snv 2
rs3173615
TMEM106B
0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 2
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 1
rs356220
LOC105377329 ; SNCA
0.925 0.080 4 89720189 intron variant T/A;C snv 1
rs11868035
RAI1 ; SREBF1
0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 1
rs868694193
REN
1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 1
rs431905511
SNCA
0.827 0.080 4 89828154 missense variant C/T snv 1
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv 1
rs199476305
TPM1
1.000 0.040 15 63044096 missense variant G/C snv 1