Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs1057518011
TMEM240
1 1535766 missense variant C/T snv 4
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs267607134
TOR1A
0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 4
rs757199733
TTN
2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 2
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35