Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 20
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs642961 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 14
rs11362
DEFB1
0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 13
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs987525
CCDC26
0.807 0.160 8 128933908 intron variant C/A snv 0.31 7
rs1546124
CRISPLD2
0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 7
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv 7
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv 7
rs2235375
IRF6
0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 7
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del 7
rs4783099
CRISPLD2
0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 6
rs12229892
PTPN11
0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 6
rs4752028
SHTN1
0.807 0.200 10 117075480 intron variant C/T snv 0.73 6
rs201002930
WNT10A
0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06 6