Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 1
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 2
rs1057519087
MFSD2A
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 1
rs1131692042
RPL10 ; SNORA70
0.925 0.120 X 154399803 missense variant C/T snv 1
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 1
rs121434612
PAK3
1.000 0.080 X 111142119 missense variant C/T snv 1
rs121434613
PAK3
0.882 0.240 X 111194402 missense variant C/A snv 1
rs121434614
PAK3
0.925 0.200 X 111196570 missense variant G/C snv 1
rs121917899
PQBP1
1.000 0.080 X 48901944 missense variant A/G snv 1
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 1
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 1
rs121918523
PHF8
0.925 0.200 X 54016662 stop gained T/A snv 1
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 1
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 4
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 1
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 1
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 5
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 1
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 1
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv 2