Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894393
FGF14
0.925 0.120 13 101726785 missense variant A/G snv 2
rs17779747 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 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
rs7208480 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 1
rs876188 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805323
PMS2
0.925 0.160 7 5987311 missense variant G/A;T snv 4.0E-06; 8.0E-02 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs149767043
C20orf194
1.000 0.040 20 3343726 missense variant G/C snv 4.0E-06 7.0E-06 1
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs73598374
ADA
0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 8
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs116928232
LIPA
0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 9
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
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
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs3730070
ADCY6
0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 2
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs3734960
DPP6
0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 2