Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs866291718
LIAS
1.000 0.040 4 39470042 missense variant A/G snv 3
rs1057518694
YARS2 ; DNM1L
1.000 12 32731069 missense variant G/A snv 2
rs1060499537
KCNT2
1.000 1 196429676 missense variant A/T snv 2
rs118192205
KCNQ2
1.000 20 63442495 missense variant G/A snv 2
rs1554616628
YWHAG
1.000 7 76329927 missense variant G/A snv 2
rs2118610
SMAD3
1.000 0.080 15 67135996 intron variant T/C snv 0.59 2
rs4945008
NADSYN1
1.000 0.080 11 71510202 intron variant A/G;T snv 2
rs7116978
PDE3B
1.000 0.080 11 14860225 intron variant T/C snv 0.65 2
rs786203999
GPT2
1.000 16 46906858 missense variant C/G snv 2
rs886037942
SLC1A2
1.000 11 35315089 missense variant C/G;T snv 2
rs760292725
SCO1
17 10681145 missense variant T/C snv 1
rs879255689
DNM1L
12 32722602 missense variant G/A snv 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs587777606
HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL
0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 6
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs767399782
TUBB4A
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06 3
rs771844443
SCN2A
1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 3
rs751866383
LIAS
1.000 0.040 4 39470047 missense variant G/T snv 4.0E-06 3
rs961150638
LIAS
1.000 0.040 4 39470038 missense variant G/C snv 4.0E-06 3
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs755090271
PDHA1
X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06 1
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs752874517
MIR6812 ; LOC105372631 ; PIGT
1.000 0.080 20 45425779 missense variant C/A;T snv 8.0E-06 7.0E-06 2
rs756762431
TUBB4A
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06 2