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: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs781978013
rs781978013
KMT2A
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.700 1.000 14 1999 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965
PTCH1
3 1.000 9 95508175 stop gained C/A;G snv 4.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs1555100954
rs1555100954
SHANK2
2 1.000 11 71118963 stop gained G/A snv 0.700 1.000 12 2010 2017
dbSNP: rs1556836399
rs1556836399
KDM5C ; MIR6895
2 1.000 X 53195978 stop gained G/A snv 0.700 1.000 12 2005 2016
dbSNP: rs786205208
rs786205208
NEXMIF
4 0.925 X 74742675 stop gained G/A snv 0.700 1.000 11 2004 2017
dbSNP: rs1554944527
rs1554944527
DEAF1
3 1.000 11 687999 stop gained G/T snv 0.700 1.000 10 2010 2017
dbSNP: rs1556220623
rs1556220623
CUL4B
2 1.000 X 120547191 stop gained G/A snv 0.700 1.000 10 2000 2017
dbSNP: rs886041382
rs886041382
WDR45
3 0.925 0.080 X 49078077 stop gained G/A snv 0.700 1.000 10 2010 2017
dbSNP: rs1554062562
rs1554062562
TRIO
3 1.000 5 14359442 stop gained C/T snv 0.700 1.000 9 1996 2017
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: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018
dbSNP: rs781469274
rs781469274
DNAH5
2 5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 6 2002 2013
dbSNP: rs761532715
rs761532715
PKDCC
3 1.000 2 42053250 stop gained C/A snv 0.700 1.000 5 2009 2014
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: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016
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