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: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2007 2007
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.710 1.000 2 2011 2017
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2006 2014
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 0.500 2 2007 2011
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.020 1.000 2 2016 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 2006 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2012 2015
dbSNP: rs20579
rs20579
LIG1
3 0.882 0.080 19 48165573 5 prime UTR variant G/A;C snv 0.13 0.020 0.500 2 2008 2015
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 0.500 2 2009 2011
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.020 1.000 2 2016 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2017 2017
dbSNP: rs2233678
rs2233678
PIN1 ; LOC100996288
14 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.020 1.000 2 2014 2017
dbSNP: rs3094054
rs3094054 		6 0.807 0.280 6 30365728 upstream gene variant G/A;T snv 0.700 1.000 2 2009 2012
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
6 0.807 0.320 6 29978172 intron variant G/A;T snv 0.700 1.000 2 2009 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2015 2019
dbSNP: rs3212961
rs3212961
ERCC1
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.020 1.000 2 2011 2014
dbSNP: rs34424986
rs34424986
PRKN
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.020 0.500 2 2015 2020
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs376040996
rs376040996
XPA
7 0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 0.020 1.000 2 2004 2007
dbSNP: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 2 2009 2012
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.710 0.500 2 2011 2018
dbSNP: rs451360
rs451360
CLPTM1L
5 0.827 0.200 5 1319565 intron variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs4635969
rs4635969 		7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.700 1.000 2 2009 2012