Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918822
ASMT
Y 1642868 missense variant C/T snv 1
rs753303079
CD55
1 207325673 missense variant C/G;T snv 8.0E-06 1
rs35693326
CDKL5 ; RS1
X 18653446 missense variant G/A;T snv 8.5E-03; 5.5E-06 1
rs761249181
COL9A1
6 70252139 missense variant C/T snv 1.6E-05 1
rs930549037
COL9A2
1 40301333 missense variant C/T snv 4.4E-05 2.8E-05 1
rs374854258
DGCR2
22 19065049 missense variant G/A snv 2.0E-05 3.5E-05 1
rs749451963
DGCR2
22 19064948 missense variant C/T snv 4.0E-06 1
rs1171889657
HADHB
2 26273656 missense variant T/C snv 4.0E-06 1
rs1301796529
LDLR ; MIR6886
19 11113444 missense variant C/G snv 4.0E-06 1
rs151191437
LIMK2
22 31277081 missense variant T/C snv 1.1E-03 1.2E-03 1
rs199583537
LRP2
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05 1
rs551253128
MID2 ; LOC101928335
X 107905581 missense variant A/G snv 1.3E-03 1.6E-04 1
rs968910165
NCAM2
21 21286370 missense variant A/G;T snv 4.0E-06 1.4E-05 1
rs10194776
PSMD1 ; HTR2B
2 231115305 intron variant C/T snv 0.54 1
rs16827801
PSMD1 ; HTR2B
2 231116063 intron variant A/C;G snv 0.40 1
rs1177566365
RIMS2
8 103766303 missense variant G/T snv 4.0E-06 7.0E-06 1
rs370304886
SPTAN1
9 128582740 missense variant G/A;C snv 4.0E-06 1
rs374073809
VASH2
1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05 1
rs150263896
ZBTB20
3 114339010 missense variant C/T snv 1.1E-05 7.0E-06 1
rs879255635
ZBTB20
3 114339384 missense variant G/A snv 1
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs1445362103
ARHGEF7
1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 2
rs200115000
CAMK2B
1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 2
rs10410239
CC2D1A
1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39 2