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: 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: rs1565706229
rs1565706229
EED ; MIR6755
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs786204849
rs786204849
FIBP
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
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: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs567573386
rs567573386
BBS2
5 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
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: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs1553249737
rs1553249737
TMCO1
4 1.000 1 165743263 stop gained G/T snv 0.700 1.000 4 2010 2014
dbSNP: rs1553897738
rs1553897738
PHOX2B
1 4 41745807 stop lost T/C snv 0.700 1.000 4 2003 2017
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs34927195
rs34927195
NLGN3
2 1.000 X 71147958 frameshift variant -/G delins 0.700 1.000 4 2003 2014
dbSNP: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016
dbSNP: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016
dbSNP: rs1554499814
rs1554499814
EZH2
2 1.000 7 148829806 missense variant C/G snv 0.700 1.000 5 1998 2013
dbSNP: rs1555801973
rs1555801973
MKKS
1 20 10412669 frameshift variant -/T delins 0.700 1.000 5 1999 2016
dbSNP: rs387906788
rs387906788
MAP3K1
2 1.000 5 56856683 missense variant T/A;C;G snv 0.700 1.000 5 2003 2015
dbSNP: rs758737171
rs758737171
GCK
3 0.925 0.040 7 44145210 missense variant C/T snv 2.9E-05 1.4E-05 0.700 1.000 5 2004 2016
dbSNP: rs761532715
rs761532715
PKDCC
3 1.000 2 42053250 stop gained C/A snv 0.700 1.000 5 2009 2014
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018