Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs120074192
KCNQ1
0.763 0.120 11 2527959 missense variant A/G snv 10
rs16847548 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 8
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv 7
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv 6
rs398124647
CALM2
0.807 0.120 2 47161851 missense variant T/A;C snv 6
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv 6
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv 6
rs4149000
SLCO1A2
0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 5
rs587782933
CACNA1C
0.827 0.200 12 2504526 missense variant G/A snv 5
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs11567847
TEAD1
0.925 0.120 11 12937202 missense variant T/C snv 3
rs11720524
SCN5A
0.882 0.080 3 38633921 intron variant C/G;T snv 0.34 3
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs1458500258
RYR2
0.925 0.080 1 237388098 missense variant G/T snv 7.0E-06 3
rs730880082
DSP
0.882 0.120 6 7576986 stop gained C/G;T snv 3
rs786205753
CACNA1C
0.925 0.080 12 2593255 missense variant G/A snv 3
rs80315385
CACNA1C
0.882 0.200 12 2504932 missense variant G/A snv 3