Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs193929392
ARHGAP6 ; HCCS
0.851 0.120 X 11118574 missense variant G/A snv 4
rs387907252
VAX1
0.882 0.160 10 117134559 missense variant G/T snv 3
rs374823079
MFRP ; C1QTNF5
1.000 0.080 11 119341673 missense variant G/A snv 8.5E-05 3.5E-05 1
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv 4
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 5
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 5
rs587778872
CRYGC ; LOC100507443
0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 6
rs387907095
PRSS56
0.925 0.080 2 232523492 missense variant G/C snv 2
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs1028344225
RARB
0.925 0.120 3 25596566 missense variant C/T snv 3
rs1554985722
PAX6
0.925 0.200 11 31802714 missense variant C/G snv 2
rs587777690
TMEM98
0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06 2
rs869312733
TMEM98
0.925 0.080 17 32940899 missense variant A/C snv 2
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs74315439
CRYAA ; LOC107987300
0.790 0.200 21 43172104 missense variant C/A;T snv 7
rs1475762618
WNT7B
1.000 0.080 22 45923167 missense variant G/A snv 1
rs1569119395
WNT7B
0.925 0.120 22 45949926 stop gained G/A snv 2
rs377669670
LINC01389 ; FOXE3
0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 2