Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs148292941
B4GALT3 ; PPOX
1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05 4
rs1800832
NTS
12 85874401 5 prime UTR variant A/G snv 8.2E-02 7.6E-02 1
rs324420
FAAH
0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 48
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23