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: rs10194776
rs10194776
HTR2B ; PSMD1
1 2 231115305 intron variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs10410239
rs10410239
CC2D1A
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1047322213
rs1047322213
PQBP1
2 1.000 0.120 X 48902470 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs104886492
rs104886492
HSD17B10
3 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519087
rs1057519087
MFSD2A
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131692042
rs1131692042
RPL10 ; SNORA70
3 0.925 0.120 X 154399803 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs115466046
rs115466046
KCNJ10
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1162306056
rs1162306056
KCNQ3
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1171889657
rs1171889657
HADHB
1 2 26273656 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1177566365
rs1177566365
RIMS2
1 8 103766303 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs121434612
rs121434612
PAK3
2 1.000 0.080 X 111142119 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121434614
rs121434614
PAK3
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121917899
rs121917899
PQBP1
2 1.000 0.080 X 48901944 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121918364
rs121918364
SRPX2
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121918822
rs121918822
ASMT
1 Y 1642868 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999