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: rs2756109
rs2756109
ABCC2
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs138105638
rs138105638
CYP3A4
3 7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs80026734
rs80026734
CYP3A5 ; ZSCAN25
1 7 99676132 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs9524885
rs9524885
ABCC4
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs4584690
rs4584690
ABCC4
1 13 95027878 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs7335912
rs7335912 		1 13 95015426 upstream gene variant A/G snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs941601
rs941601
SERPINA6
1 14 94305204 intron variant C/T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs3212361
rs3212361
MC1R
1 16 89918814 5 prime UTR variant G/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs13093031
rs13093031 		2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs12633508
rs12633508 		1 3 88765985 intergenic variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs806378
rs806378
CNR1
2 1.000 0.040 6 88149832 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2241883
rs2241883
FABP1
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 1.000 1 2016 2016
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2019
dbSNP: rs104894561
rs104894561
CSNK1D
5 0.882 0.120 17 82265743 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs1972597
rs1972597 		2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs7718461
rs7718461
CRHBP
1 5 76962223 intron variant A/G snv 0.51 0.010 1.000 1 2016 2016