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: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553268563
rs1553268563
USH2A
2 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 15 2000 2015
dbSNP: rs1553283037
rs1553283037
HNRNPU
2 1.000 1 244860382 missense variant T/C snv 0.700 1.000 13 2010 2017
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
dbSNP: rs1553245943
rs1553245943
ATP1A2
2 1.000 0.080 1 160137001 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs730882175
rs730882175
KCNH1
3 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016
dbSNP: rs1247427997
rs1247427997
TMCO1
4 1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2010 2014
dbSNP: rs1553249737
rs1553249737
TMCO1
4 1.000 1 165743263 stop gained G/T snv 0.700 1.000 4 2010 2014
dbSNP: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs757823678
rs757823678
DNMT3A
2 1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
dbSNP: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017
dbSNP: rs761532715
rs761532715
PKDCC
3 1.000 2 42053250 stop gained C/A snv 0.700 1.000 5 2009 2014
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 14 2006 2018
dbSNP: rs867262025
rs867262025
PIK3CA
10 0.790 0.360 3 179221146 missense variant G/A snv 0.700 1.000 14 2006 2018
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
2 1.000 3 114350821 frameshift variant -/C delins 0.700 1.000 7 2009 2017
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553897738
rs1553897738
PHOX2B
1 4 41745807 stop lost T/C snv 0.700 1.000 4 2003 2017
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 11 1997 2016