Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
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
rs2235375
IRF6
0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 7
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv 7
rs104893810
TGFBR2
0.790 0.360 3 30691477 missense variant C/T snv 7
rs4783099
CRISPLD2
0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 6
rs2486668
GRHL3
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 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
rs560426
ABCA4
0.851 0.200 1 94087882 intron variant C/T snv 0.53 5
rs10130587
BMP4
0.851 0.200 14 53952392 intron variant G/C snv 0.45 5
rs2124459
CBS
0.827 0.200 21 43055604 3 prime UTR variant T/C snv 0.36 5
rs2326398
CRISPLD2
0.827 0.200 16 84869111 intron variant A/G snv 0.37 5
rs493760
DROSHA
0.851 0.200 5 31436933 intron variant C/T snv 0.74 5
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 5
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs13041247
LOC102724968
0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 5
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv 5
rs2269529
MYH9 ; MIR6819
0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18 5
rs1474322770
NKX2-1 ; NKX2-1-AS1 ; SFTA3
0.827 0.240 14 36519251 missense variant G/A snv 5
rs2239907
SARM1 ; SLC46A1
0.851 0.200 17 28398728 3 prime UTR variant T/C snv 0.53 5
rs739439
SLC46A1 ; SARM1
0.851 0.200 17 28396803 3 prime UTR variant C/T snv 0.13 5
rs11466285
TGFA
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 5
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 5