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: rs1135402725
rs1135402725
PDHX
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017
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: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
8 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs373345919
rs373345919
G6PC
5 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs56268439
rs56268439
MECP2
2 1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 0.010 1.000 1 2002 2002
dbSNP: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs62653623
rs62653623
CDKL5
5 0.851 0.240 X 18575383 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72554644
rs72554644
ATP7A ; PGK1
2 1.000 0.160 X 78012885 stop gained G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs762374961
rs762374961
HEXA
4 0.925 0.160 15 72346235 stop gained C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs773446161
rs773446161
HEXA
7 0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs796052995
rs796052995
SCN1A ; SCN1A-AS1 ; LOC102724058
1 2 166013842 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs797044519
rs797044519
DYRK1A
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
6 0.925 21 37505442 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797046101
rs797046101
WDR45
5 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs878853169
rs878853169
NBEA
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs878853280
rs878853280
FRRS1L
4 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
FRRS1L
4 1.000 9 109141360 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886039261
rs886039261
DEPDC5
3 0.925 0.040 22 31815101 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104893851
rs104893851
MMAA
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 0