Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs74315439
CRYAA ; LOC107987300
0.790 0.200 21 43172104 missense variant C/A;T snv 7
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 4
rs1554641549
SCRIB ; PUF60
0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 3