Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs760292725
SCO1
17 10681145 missense variant T/C snv 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1057518443
CUL4B
1.000 0.040 X 120557964 missense variant T/C snv 3
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs7116978
PDE3B
1.000 0.080 11 14860225 intron variant T/C snv 0.65 2
rs1562902
CYP2R1
0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 3
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
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
rs121918807
LOC102724058 ; SCN1A ; SCN1A-AS1
0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 5
rs755090271
PDHA1
X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06 1
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs1060499537
KCNT2
1.000 1 196429676 missense variant A/T snv 2
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs281864720
ALK
0.925 0.040 2 29213994 missense variant A/C;G;T snv 4
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs879255689
DNM1L
12 32722602 missense variant G/A snv 1
rs1057518694
YARS2 ; DNM1L
1.000 12 32731069 missense variant G/A snv 2
rs745386663
GLB1
0.807 0.160 3 33051956 missense variant G/A snv 8.0E-06 2.1E-05 7
rs886037942
SLC1A2
1.000 11 35315089 missense variant C/G;T snv 2
rs1057524792
LIAS
1.000 0.040 4 39467617 missense variant T/G snv 3
rs961150638
LIAS
1.000 0.040 4 39470038 missense variant G/C snv 4.0E-06 3