Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518913
rs1057518913
EHMT1
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1557136818
rs1557136818
MECP2
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs200119628
rs200119628
RTN4R ; LOC105372864
1 1.000 0.040 22 20241938 missense variant G/A snv 3.0E-04 2.4E-04 0.700 0
dbSNP: rs748655075
rs748655075
RTN4R ; LOC105372864
1 1.000 0.040 22 20242004 missense variant G/A snv 4.5E-05 2.8E-05 0.700 0
dbSNP: rs779384862
rs779384862
RTN4R ; LOC105372864
1 1.000 0.040 22 20242003 missense variant C/G;T snv 7.8E-05 0.700 0
dbSNP: rs797045205
rs797045205
ABCA13
1 1.000 0.040 7 48387961 splice donor variant T/C snv 4.3E-06 1.4E-05 0.700 0
dbSNP: rs875989808
rs875989808
SYNGAP1
3 0.925 0.160 6 33444529 missense variant C/T snv 0.700 0
dbSNP: rs1801028
rs1801028
DRD2
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.100 0.885 26 1994 2019
dbSNP: rs1800557
rs1800557
APP
3 0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05 0.020 1.000 2 1994 1995
dbSNP: rs145497708
rs145497708
DRD5 ; SLC2A9
1 1.000 0.040 4 9783034 stop gained C/A;T snv 1.9E-03; 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.810 42 1996 2019
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.100 0.793 29 1996 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.854 123 1997 2019
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.020 1.000 2 1997 2002
dbSNP: rs112175378
rs112175378
ATXN1
1 1.000 0.040 6 16327755 missense variant T/A;G snv 3.2E-03; 4.1E-06 0.010 1.000 1 1997 1997
dbSNP: rs1800567
rs1800567
PENK
1 1.000 0.040 8 56441336 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs1805055
rs1805055
HTR2A
3 0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02 0.010 1.000 1 1997 1997
dbSNP: rs6314
rs6314
HTR2A
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.080 1.000 8 1998 2017
dbSNP: rs1800044
rs1800044
HTR1A
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1998 1998
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.010 < 0.001 1 1998 1998
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.841 44 1999 2019
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.040 0.250 4 1999 2012
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.090 0.667 9 2000 2015
dbSNP: rs138354054
rs138354054
DRD3
1 1.000 0.040 3 114171881 missense variant C/A;T snv 8.7E-04 0.010 < 0.001 1 2000 2000