Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 4
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 5
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 3
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 3
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv 7
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 3
rs1249144069
PITRM1-AS1 ; PITRM1
0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs1278838206
PCDH19
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 3
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 2
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 3
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 4