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: rs1057517846
rs1057517846
WWOX
2 1.000 16 78108446 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1206736425
rs1206736425
FCGR3B
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
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: rs1057518759
rs1057518759
CDKL5
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057518777
rs1057518777
UBE3A ; SNHG14
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs1057518800
rs1057518800
GRIN2B
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
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: rs145536528
rs145536528
SLU7
3 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs200345816
rs200345816
CUX1 ; SH2B2
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2076101
rs2076101
APOBEC3F
3 0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 0.010 1.000 1 2016 2016
dbSNP: rs34832477
rs34832477
TUBGCP2
3 0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs367619008
rs367619008
DPYD
3 0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 0.010 1.000 1 2011 2011
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: 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: rs886041459
rs886041459
TUBB3
3 0.925 0.080 16 89935140 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
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: rs104894884
rs104894884
NDUFA1 ; RNF113A
4 0.882 0.040 X 119871933 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1057517718
rs1057517718
CLCN7
4 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs179363901
rs179363901
MECP2
4 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs193929353
rs193929353
KCNJ11
4 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.010 1.000 1 2016 2016