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: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs1554434435
rs1554434435
CAMK2B
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs546151500
rs546151500
ZNF142
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs758865880
rs758865880
KYNU
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs878853169
rs878853169
NBEA
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 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: rs147030232
rs147030232
BBS2
8 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs147682682
rs147682682
MITF
4 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0