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: rs878853169
rs878853169
NBEA
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1060499626
rs1060499626
ZMYND11
6 0.882 0.160 10 180034 stop gained C/T snv 0.700 0
dbSNP: rs200203460
rs200203460
CLPB
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs201111299
rs201111299
CENPJ
4 0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05 0.700 0
dbSNP: rs757600616
rs757600616
WARS2
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs773685207
rs773685207
MED13
6 0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 0.700 0
dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
4 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
5 0.882 0.160 18 33739086 stop gained C/A snv 0.700 0
dbSNP: rs878853163
rs878853163
SATB2
4 0.925 0.200 2 199323850 stop gained T/A;C snv 0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
5 1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
6 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
dbSNP: rs150015474
rs150015474
STYXL1 ; TMEM120A
1 1.000 0.160 7 75996479 missense variant G/C;T snv 1.8E-03; 4.0E-06 7.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1554297905
rs1554297905
RALA
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs767961672
rs767961672
FOXG1
4 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312667
rs869312667
NBEA
2 1.000 0.160 13 35157262 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs119103286
rs119103286
TTC8
5 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
dbSNP: rs121908216
rs121908216
CACNA1A
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0