Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912585
KIF21A
0.851 0.160 12 39332405 missense variant G/A snv 2
rs1057519561
SNX14
0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 4
rs774694340
SNX14
0.882 0.200 6 85508043 frameshift variant A/- del 6.4E-05 1.4E-05 4
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins 13
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 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
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63