Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 11
rs3764880
TLR8-AS1 ; TLR8
0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 11
rs3853839
TLR7
0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 10
rs886039806
KIAA0586
0.851 0.160 14 58467887 missense variant T/A;C;G snv 8
rs587777589
AARS2
0.851 0.280 6 44311095 frameshift variant -/C delins 7
rs1057518827
NLRP3
1.000 0.040 1 247425248 missense variant A/G snv 3
rs780581250
PMM2
0.925 0.120 16 8813015 missense variant T/C snv 1.6E-05 2