Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs397514611
FARS2
1.000 6 5545261 missense variant T/C snv 1.2E-05 2
rs397514612
FARS2
1.000 6 5613275 missense variant A/T snv 1.6E-05 7.0E-06 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
rs751557097
CPT2
1 53213431 missense variant G/C snv 2.8E-05 1
rs755090271
PDHA1
X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06 1
rs756712426
IDH3A
15 78166196 missense variant C/A snv 2.0E-05 1
rs760292725
SCO1
17 10681145 missense variant T/C snv 1
rs879255689
DNM1L
12 32722602 missense variant G/A snv 1
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 7
rs281864720
ALK
0.925 0.040 2 29213994 missense variant A/C;G;T snv 4
rs796052650
LOC105372724 ; KCNQ2
0.925 0.040 20 63413574 missense variant G/A;C snv 4
rs1057518443
CUL4B
1.000 0.040 X 120557964 missense variant T/C snv 3
rs1057524792
LIAS
1.000 0.040 4 39467617 missense variant T/G snv 3
rs751866383
LIAS
1.000 0.040 4 39470047 missense variant G/T snv 4.0E-06 3
rs771844443
SCN2A
1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 3
rs796053150
SCN2A
1.000 0.040 2 165386827 missense variant A/G snv 3
rs866291718
LIAS
1.000 0.040 4 39470042 missense variant A/G snv 3
rs961150638
LIAS
1.000 0.040 4 39470038 missense variant G/C snv 4.0E-06 3
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8