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: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs778431173
rs778431173
BBS10
1 12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 0.700 1.000 17 1999 2013
dbSNP: rs1555801973
rs1555801973
MKKS
1 20 10412669 frameshift variant -/T delins 0.700 1.000 5 1999 2016
dbSNP: rs1553897738
rs1553897738
PHOX2B
1 4 41745807 stop lost T/C snv 0.700 1.000 4 2003 2017
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: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1555186842
rs1555186842
KMT2D
2 1.000 12 49030285 frameshift variant -/GTGCCCTT delins 0.700 1.000 25 1988 2017
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
dbSNP: rs1555244216
rs1555244216
MED13L
2 1.000 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
dbSNP: rs1553268563
rs1553268563
USH2A
2 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
dbSNP: rs1554898088
rs1554898088
PTEN
2 1.000 10 87933066 frameshift variant CC/-;C delins 0.700 1.000 14 2001 2015
dbSNP: rs111033284
rs111033284
MYO7A
2 11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 13 1995 2011
dbSNP: rs1553283037
rs1553283037
HNRNPU
2 1.000 1 244860382 missense variant T/C snv 0.700 1.000 13 2010 2017
dbSNP: rs1553245943
rs1553245943
ATP1A2
2 1.000 0.080 1 160137001 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs1555100954
rs1555100954
SHANK2
2 1.000 11 71118963 stop gained G/A snv 0.700 1.000 12 2010 2017
dbSNP: rs1555440555
rs1555440555
CHD2
2 1.000 15 92953386 missense variant T/C snv 0.700 1.000 12 2007 2017
dbSNP: rs1556836399
rs1556836399
KDM5C ; MIR6895
2 1.000 X 53195978 stop gained G/A snv 0.700 1.000 12 2005 2016
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
2 1.000 14 21394188 frameshift variant G/-;GG delins 0.700 1.000 12 2008 2017
dbSNP: rs1555625571
rs1555625571
TUBB3
2 16 89934974 missense variant G/C snv 0.700 1.000 10 2010 2016
dbSNP: rs1556220623
rs1556220623
CUL4B
2 1.000 X 120547191 stop gained G/A snv 0.700 1.000 10 2000 2017
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
2 1.000 3 114350821 frameshift variant -/C delins 0.700 1.000 7 2009 2017
dbSNP: rs1556039406
rs1556039406
NHS
2 1.000 X 17727350 frameshift variant C/- delins 0.700 1.000 7 2002 2014
dbSNP: rs977277400
rs977277400
MYBPC3
2 11 47336012 splice acceptor variant C/G snv 0.700 1.000 7 1995 2013
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018