Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs121908096
CYP27A1
0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 10
rs886556800
CYP27A1
0.827 0.320 2 218809576 splice acceptor variant G/T snv 10
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 9
rs1057518780
GJB1
0.882 0.200 X 71224209 missense variant T/G snv 8
rs121913589
MPZ
0.827 0.200 1 161306863 missense variant C/A;G;T snv 7
rs121913602
MPZ
0.851 0.120 1 161307308 missense variant T/A snv 5
rs754081544
MRPL43 ; TWNK
0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 5
rs7349683
EPHA5
0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 3
rs755919784
SPTLC3
1.000 0.080 20 13072400 missense variant T/C snv 2.6E-05 1.4E-05 2
rs777050623
BCL11B
1.000 0.080 14 99175768 missense variant G/C;T snv 1
rs10771973
FGD4
1.000 0.080 12 32640040 intron variant G/A snv 0.27 1