Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1444879414
ALDH7A1
5 126595148 frameshift variant -/T delins 6.0E-06 1
rs778003597
ALDH7A1
5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06 1
rs1553709380
ATP6V1A
0.925 0.040 3 113778833 missense variant C/G snv 1
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv 1
rs398122917
CLIC2
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 1
rs375562245
CTSF
11 66566363 stop gained G/A;C snv 4.0E-06 1
rs1372605067
DEPDC5
22 31821593 frameshift variant CT/- delins 4.0E-06 1
rs1569232705
DEPDC5
22 31897565 stop gained C/G snv 1
rs373345919
G6PC
0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 1
rs121909674
GABRG2
0.790 0.080 5 162153132 stop gained C/T snv 1
rs121909731
GLUD1
0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 1
rs56275071
GLUD1
0.882 0.120 10 87062757 missense variant G/A snv 1
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 1
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs1568927820
KCNQ2
20 63439686 missense variant T/C snv 1
rs1568940442
KCNQ2
20 63444765 missense variant G/A snv 1
rs28939683
KCNQ2
0.925 0.080 20 63439674 missense variant T/C snv 1
rs794727741
KCNQ2
20 63442521 missense variant G/A snv 1
rs118192250
KCNQ3
0.851 0.120 8 132175457 missense variant C/A snv 1
rs1564367605
KCNT1
9 135768856 missense variant G/A snv 1
rs368001837
KCTD7
0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05 1
rs28937874
LGI1
1.000 0.120 10 93797277 missense variant A/C snv 1
rs869320632
LMAN2L
0.925 0.040 2 96739883 missense variant C/T snv 1
rs796052650
LOC105372724 ; KCNQ2
0.925 0.040 20 63413574 missense variant G/A;C snv 1
rs397515327
LOC107984397 ; DPAGT1
1.000 0.080 11 119100785 missense variant G/A;C snv 8.0E-06; 4.0E-06 1