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: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.040 1.000 4 2015 2020
dbSNP: rs760077
rs760077
MTX1 ; THBS3
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 2 2015 2020
dbSNP: rs10029005
rs10029005
LINC02516
1 1.000 0.080 4 124530209 intron variant G/A snv 0.40 0.700 1.000 1 2020 2020
dbSNP: rs10509671
rs10509671
PLCE1
1 1.000 0.080 10 94309297 intron variant T/G snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs2758339
rs2758339
SOD2
2 0.925 0.080 6 159691552 3 prime UTR variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs5746136
rs5746136
SOD2
6 0.807 0.200 6 159682052 3 prime UTR variant C/T snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs6897169
rs6897169
PTGER4 ; TTC33
1 1.000 0.080 5 40726036 intron variant C/A;T snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs7624041
rs7624041 		1 1.000 0.080 3 94389819 intergenic variant G/A snv 0.89 0.700 1.000 1 2020 2020
dbSNP: rs8193
rs8193
CD44
4 0.925 0.080 11 35229771 3 prime UTR variant C/T snv 0.29 0.010 1.000 1 2020 2020
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.800 0.971 34 2009 2019
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.100 1.000 16 2010 2019
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.100 0.833 12 2012 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.100 0.909 11 2009 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 1.000 11 2007 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.100 0.700 10 2014 2019
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.080 1.000 8 2008 2019
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.060 0.833 6 2016 2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.060 0.833 6 2010 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.040 1.000 4 2012 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.040 1.000 4 2011 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.040 0.750 4 2014 2019
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.030 1.000 3 2006 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 1.000 3 2011 2019
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.030 1.000 3 2012 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.030 1.000 3 2012 2019