Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv 7
rs11567847
TEAD1
0.925 0.120 11 12937202 missense variant T/C snv 3
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
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs192749597
CACNA1C ; CACNA1C-AS1
0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 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
rs3730070
ADCY6
0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 2
rs104894393
FGF14
0.925 0.120 13 101726785 missense variant A/G snv 2
rs3864180
GPC5
1.000 0.040 13 91784234 intron variant A/G;T snv 1
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv 6
rs876188 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 1
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs17779747 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 2
rs7208480 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 1
rs73598374
ADA
0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 8
rs149767043
C20orf194
1.000 0.040 20 3343726 missense variant G/C snv 4.0E-06 7.0E-06 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs386418 1.000 0.040 Y 3213255 intergenic variant G/C snv 1