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: 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: rs1555244216
rs1555244216
MED13L
2 1.000 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
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: rs587777618
rs587777618
CCND2
4 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018
dbSNP: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
dbSNP: rs121918490
rs121918490
FGFR2
6 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
dbSNP: rs1555186842
rs1555186842
KMT2D
2 1.000 12 49030285 frameshift variant -/GTGCCCTT delins 0.700 1.000 25 1988 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
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: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
4 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
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: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
2 1.000 14 21394188 frameshift variant G/-;GG delins 0.700 1.000 12 2008 2017
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: rs1555891562
rs1555891562
GNAS
3 1.000 20 58909707 missense variant G/A snv 0.700 1.000 10 1993 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: rs1556235119
rs1556235119
UBE2A
3 1.000 X 119574712 start lost A/G snv 0.700 1.000 8 2006 2017