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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2007 2009
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2018 2018
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 2011 2011
dbSNP: rs1409851868
rs1409851868
EPHA3
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs10514299
rs10514299
TMEM161B-AS1
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
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 2012 2012
dbSNP: rs7766029
rs7766029 		7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.020 1.000 2 2009 2019
dbSNP: rs701848
rs701848
PTEN
10 0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs2735343
rs2735343
PTEN
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs139832701
rs139832701
CAV3
3 0.925 0.080 3 8773124 intron variant T/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2268498
rs2268498
CAV3 ; OXTR
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.090 0.889 9 2014 2019
dbSNP: rs2254298
rs2254298
CAV3 ; OXTR
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1202184
rs1202184
ABCB1
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1922242
rs1922242
ABCB1
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2014 2015
dbSNP: rs2349775
rs2349775
NXPH1
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1187329
rs1187329
NTRK2
3 0.925 0.080 9 84674365 intron variant A/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs1187323
rs1187323
NTRK2
5 0.882 0.080 9 84668501 upstream gene variant C/A;G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs1212171
rs1212171
NTRK2
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1545843
rs1545843
LOC107984536
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.020 1.000 2 2013 2017