Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555652383
rs1555652383
BPTF
13 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519561
rs1057519561
SNX14
4 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs757511770
rs757511770
FMN2
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs774694340
rs774694340
SNX14
4 0.882 0.200 6 85508043 frameshift variant A/- del 6.4E-05 1.4E-05 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs1057520131
rs1057520131
FBN1
2 0.925 0.240 15 48508633 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121912585
rs121912585
KIF21A
4 0.851 0.160 12 39332405 missense variant G/A snv 0.010 1.000 1 2019 2019