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: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121434441
rs121434441
3 0.882 0.240 12 57569015 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs121434444
rs121434444
4 0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1331505548
rs1331505548
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1364050643
rs1364050643
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs142375870
rs142375870
MAG
3 0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163
MAG
3 0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs387906710
rs387906710
3 0.882 0.120 X 56565362 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs772400670
rs772400670
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs864622269
rs864622269
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs116171274
rs116171274
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.700 1.000 5 2009 2014
dbSNP: rs587776888
rs587776888
2 0.925 0.160 1 228149860 upstream gene variant A/G snv 0.700 1.000 5 2010 2014
dbSNP: rs1555177629
rs1555177629
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 4 2009 2015
dbSNP: rs587777222
rs587777222
2 0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05 0.700 1.000 4 2009 2014
dbSNP: rs137852520
rs137852520
4 0.851 0.200 X 153868866 missense variant C/T snv 0.700 1.000 3 1994 2002
dbSNP: rs1558119445
rs1558119445
1 1.000 0.080 1 228157841 frameshift variant -/AC delins 0.700 1.000 3 2004 2010
dbSNP: rs72554620
rs72554620
3 0.882 0.200 8 64604753 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 3 1998 2010
dbSNP: rs746979262
rs746979262
1 1.000 0.080 8 64624475 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs780247476
rs780247476
2 0.925 0.160 13 23332970 stop gained G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2008 2011
dbSNP: rs1259615333
rs1259615333
2 0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs1553262438
rs1553262438
1 1.000 0.080 1 228157899 stop gained C/G snv 0.700 1.000 2 2008 2010
dbSNP: rs1566058677
rs1566058677
1 1.000 0.080 13 23332943 frameshift variant G/- del 0.700 1.000 2 2010 2011
dbSNP: rs1569285562
rs1569285562
1 1.000 0.080 X 53224889 start lost T/C snv 0.700 1.000 2 2012 2015