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: rs17228616
rs17228616
ACHE ; UFSP1
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17228602
rs17228602
ACHE ; UFSP1
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs230530
rs230530
NFKB1
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs2377339
rs2377339
NCK2
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs764987358
rs764987358
ANGPT1
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs382140
rs382140 		1 7 108141755 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs7118900
rs7118900
ANKK1
1 11 113396099 missense variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2017
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2283265
rs2283265
DRD2
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs4436578
rs4436578
DRD2
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2020 2020
dbSNP: rs4648318
rs4648318
DRD2
2 1.000 0.080 11 113442667 intron variant T/C snv 0.33 0.010 1.000 1 2020 2020
dbSNP: rs1409568
rs1409568 		2 1.000 0.040 10 118871273 intron variant T/C snv 8.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs604300
rs604300
MGLL
3 1.000 0.080 3 127724009 intron variant A/G snv 0.91 0.010 1.000 1 2015 2015
dbSNP: rs1075650
rs1075650
IER5L
1 9 129176634 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2952621
rs2952621 		4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs1611131
rs1611131
DBH ; DBH-AS1
3 0.925 0.080 9 133657065 splice region variant A/G snv 0.28; 4.0E-06 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2073837
rs2073837
DBH ; DBH-AS1
1 9 133657806 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1040288
rs1040288
NR3C2
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019
dbSNP: rs769540300
rs769540300
OPRM1
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004