Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs10719
DROSHA
0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 24
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
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv 7
rs1546124
CRISPLD2
0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 7
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del 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
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv 7
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs11466285
TGFA
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 5
rs1269636220
WDR11
0.851 0.280 10 120865109 missense variant A/G snv 5
rs1306416169
NSMF
0.851 0.280 9 137453808 missense variant C/T snv 5
rs1487309678
SEMA3A
0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 5
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 5
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv 4
rs227731 0.882 0.120 17 56695877 intergenic variant T/A;G snv 4
rs4791774
NTN1
0.882 0.240 17 9028802 intron variant A/C;G snv 4
rs66515264
ABCA4
0.882 0.120 1 94092554 intron variant G/A;T snv 3
rs7566780 0.882 0.120 2 16548089 intron variant A/C;G snv 3
rs11072494
ARID3B
0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 2
rs11582254
TMCO4
0.925 0.120 1 19691584 intron variant T/A;C snv 2
rs1878918
NRG1
0.925 0.120 8 32476054 intron variant G/A;C snv 2
rs2283487 0.925 0.120 16 3919885 intergenic variant A/C;G snv 2
rs6126344
SALL4
0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06 2