Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs778431173
BBS10
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 1
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins 1
rs1553897738
PHOX2B
4 41745807 stop lost T/C snv 1
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv 1
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv 2
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs1555440555
CHD2
1.000 15 92953386 missense variant T/C snv 2
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 2
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins 2
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins 2
rs387906788
MAP3K1
1.000 5 56856683 missense variant T/A;C;G snv 2
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv 2
rs1556836399
MIR6895 ; KDM5C
1.000 X 53195978 stop gained G/A snv 2
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv 2
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins 2
rs34927195
NLGN3
1.000 X 71147958 frameshift variant -/G delins 2
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins 2
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1555100954
SHANK2
1.000 11 71118963 stop gained G/A snv 2