Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv 4
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs115466046
KCNJ10
1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 2
rs140646329
KCNJ10
1 160042283 missense variant C/T snv 2.0E-05 1.4E-05 2
rs1438466809
KCNJ1
11 128840191 missense variant C/T snv 4.0E-06 2
rs1464216639
MAN1B1
1.000 9 137106289 stop gained G/A snv 6.1E-06 2
rs187438258
MYHAS ; MYH2
17 10525806 missense variant G/A snv 8.6E-04 1.9E-04 2
rs202198533
MYH2 ; MYHAS
17 10533547 missense variant C/T snv 1.6E-04 1.0E-04 2
rs370667926
MED23
1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 2
rs387906728
UBE2A
1.000 X 119574743 missense variant G/A snv 2
rs745756308
HNMT ; LOC107985948
1.000 2 138013874 missense variant T/C snv 4.0E-06 2
rs758252808
HNMT
1.000 2 137970206 missense variant G/A snv 4.1E-06 2
rs864309721
CDC42
1.000 1 22086451 missense variant A/G snv 2
rs10194776
PSMD1 ; HTR2B
2 231115305 intron variant C/T snv 0.54 1
rs1171889657
HADHB
2 26273656 missense variant T/C snv 4.0E-06 1
rs1177566365
RIMS2
8 103766303 missense variant G/T snv 4.0E-06 7.0E-06 1
rs121918822
ASMT
Y 1642868 missense variant C/T snv 1
rs1301796529
LDLR ; MIR6886
19 11113444 missense variant C/G snv 4.0E-06 1
rs150263896
ZBTB20
3 114339010 missense variant C/T snv 1.1E-05 7.0E-06 1
rs151191437
LIMK2
22 31277081 missense variant T/C snv 1.1E-03 1.2E-03 1
rs16827801
PSMD1 ; HTR2B
2 231116063 intron variant A/C;G snv 0.40 1
rs199583537
LRP2
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05 1
rs35693326
CDKL5 ; RS1
X 18653446 missense variant G/A;T snv 8.5E-03; 5.5E-06 1
rs370304886
SPTAN1
9 128582740 missense variant G/A;C snv 4.0E-06 1