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: rs917112
rs917112
PLOD3
1 1.000 0.080 7 101213710 intron variant T/C snv 1.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2011 2011
dbSNP: rs11184738
rs11184738
LOC105378885
1 1.000 0.080 1 106056773 intron variant G/A snv 7.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1364898025
rs1364898025
ATM
3 0.925 0.080 11 108227656 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2015 2019
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2018
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs11066008
rs11066008
ACAD10
1 1.000 0.080 12 111702865 intron variant A/G snv 9.1E-03 0.700 1.000 1 2011 2011
dbSNP: rs11066015
rs11066015
ACAD10
5 0.925 0.120 12 111730205 intron variant G/A snv 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs4646776
rs4646776
ALDH2
2 0.925 0.120 12 111792215 intron variant G/A;C snv 1.9E-02 5.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.780 1.000 10 2001 2019
dbSNP: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2018 2018