Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 7
rs398124204
FOXG1
0.925 0.160 14 28767733 frameshift variant G/-;GG delins 2
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 4
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 8
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15