Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 3
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 3
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins 1
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs1555244216
MED13L
1.000 12 115987290 splice acceptor variant T/C snv 2
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 6
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins 2
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5
rs781469274
DNAH5
5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 2
rs777096695
AGK
1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 3
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2
rs773724817
KCNH2
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 4
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs946006593
GATAD2B
1 153812108 stop gained G/A;C snv 2
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs61752992
MECP2
0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 9
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv 2
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4