Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805323
PMS2
0.925 0.160 7 5987311 missense variant G/A;T snv 4.0E-06; 8.0E-02 2
rs606231451
TMEM240
0.925 0.120 1 1535372 missense variant G/A snv 2
rs386418 1.000 0.040 Y 3213255 intergenic variant G/C snv 1
rs3864180
GPC5
1.000 0.040 13 91784234 intron variant A/G;T snv 1
rs1458500258
RYR2
0.925 0.080 1 237388098 missense variant G/T snv 7.0E-06 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs149767043
C20orf194
1.000 0.040 20 3343726 missense variant G/C snv 4.0E-06 7.0E-06 1
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs192749597
CACNA1C ; CACNA1C-AS1
0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 3
rs138694505
SEMA3A
1.000 0.040 7 84007493 missense variant T/C snv 3.4E-03 6.6E-03 1
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs4149000
SLCO1A2
0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 5
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs16847548 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 8
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs3730070
ADCY6
0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 2
rs17779747 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 2
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs7208480 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 1
rs11720524
SCN5A
0.882 0.080 3 38633921 intron variant C/G;T snv 0.34 3
rs3734960
DPP6
0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 2
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs876188 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 1