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: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.720 1.000 2 2017 2018
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2008 2008
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2008 2008
dbSNP: rs10090787
rs10090787
SNTB1 ; LOC107986874
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.710 1.000 1 2017 2017
dbSNP: rs11130760
rs11130760
FHIT
2 1.000 0.080 3 60210809 intron variant G/T snv 0.12 0.710 1.000 1 2017 2017
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2012 2012
dbSNP: rs1800870
rs1800870
ALDH3A2
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2120243
rs2120243
VEPH1
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2008 2008
dbSNP: rs3092904
rs3092904
RB1
2 1.000 0.080 13 48477345 intron variant T/A snv 0.24 0.20 0.010 1.000 1 2014 2014
dbSNP: rs33438
rs33438
ZNF536
2 1.000 0.080 19 30454165 intron variant G/A snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs34329
rs34329
CDKN1B
2 1.000 0.080 12 12720299 intron variant G/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs3757769
rs3757769
SND1
2 1.000 0.080 7 127901009 intron variant A/G snv 9.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs3807987
rs3807987
CAV1
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs3813867
rs3813867
CYP2E1 ; LOC107984284
13 0.732 0.240 10 133526101 intron variant G/A;C snv 0.010 1.000 1 2011 2011