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: rs17588172
rs17588172 		2 0.925 0.040 7 116513961 intergenic variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1800779
rs1800779
NOS3
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs184561087
rs184561087
OPTN
2 0.925 0.120 10 13110394 missense variant G/A;T snv 3.6E-05; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs185815146
rs185815146
ENO4
1 1.000 0.040 10 116864069 intron variant G/A snv 2.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs1884054
rs1884054
ESR1
1 1.000 0.040 6 151970431 intron variant C/A snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1926320
rs1926320
DCLK1
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs197388
rs197388
DDX20 ; INKA2 ; LOC101928718
2 0.925 0.040 1 111754860 non coding transcript exon variant A/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs199476128
rs199476128
ATP8 ; COX1 ; COX2
1 1.000 0.040 MT 6480 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs199746824
rs199746824
MYOC
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs200165736
rs200165736
COX1 ; COX2
1 1.000 0.040 MT 6253 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs200547613
rs200547613
MYOC ; MYOCOS
2 0.925 0.040 1 171638675 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs2156323
rs2156323
VAV2
3 0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2253592
rs2253592
ASB10
1 1.000 0.040 7 151181173 synonymous variant C/A;G;T snv 3.7E-05; 0.40; 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs2383204
rs2383204
CDKN2B-AS1
6 0.827 0.160 9 22055049 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs2567206
rs2567206
CYP1B1 ; CYP1B1-AS1
7 0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs2754511
rs2754511
BIRC6
3 0.882 0.040 2 32545090 intron variant A/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2801219
rs2801219
VAV3
3 0.882 0.040 1 107959790 intron variant C/A snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs28358580
rs28358580
ND1 ; RNR2
1 1.000 0.040 MT 2416 non coding transcript exon variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2842980
rs2842980
SOD2
1 1.000 0.040 6 159679084 3 prime UTR variant A/T snv 0.77 0.010 1.000 1 2014 2014