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: rs13440581
rs13440581
GPR50
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1960264
rs1960264
SAT1 ; LOC105373148
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2072621
rs2072621
GPR50 ; GPR50-AS1
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.931 29 2004 2019
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.050 1.000 5 2008 2016
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.020 1.000 2 2008 2019
dbSNP: rs165599
rs165599
ARVCF ; COMT
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs3761422
rs3761422
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
4 1.000 0.040 22 24430704 intron variant T/C snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs4822492
rs4822492
ADORA2A-AS1
4 1.000 0.040 22 24447626 intron variant C/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs61910731
rs61910731
COMT ; MIR4761
2 1.000 0.040 22 19963574 missense variant G/A;C;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6269
rs6269
COMT ; MIR4761
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs75012854
rs75012854
COMT ; MIR4761
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs774847933
rs774847933
COMT ; MIR4761
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs2740210
rs2740210
OXT ; LOC101929098
7 0.827 0.120 20 3072609 downstream gene variant C/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs4813627
rs4813627 		2 1.000 0.040 20 3074867 downstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs6030245
rs6030245
PTPRT
1 20 42441919 intron variant T/C snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs2695121
rs2695121
NR1H2
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs12454712
rs12454712
BCL2
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.010 1.000 1 2010 2010