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: rs80356611
rs80356611
KCNJ11
10 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs80356618
rs80356618
KCNJ11
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908332
rs121908332
KCNK9
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104894421
rs104894421
LIG4
4 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
5 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs179363901
rs179363901
MECP2
4 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs786203986
rs786203986
NALCN
3 0.925 13 101176371 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs1310897090
rs1310897090
NBAS
2 1.000 2 15467394 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs368085185
rs368085185
NBAS
2 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs751569508
rs751569508
NCOR1
5 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
dbSNP: rs104894884
rs104894884
NDUFA1 ; RNF113A
4 0.882 0.040 X 119871933 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885
NDUFA1 ; RNF113A
5 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1135402758
rs1135402758
NUP214
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs398122855
rs398122855
PRPS1
5 0.882 0.240 X 107642384 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0