Source: BEFREE ×
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: rs11614913
rs11614913
HOXC6 ; MIR196A2
110 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.030 0.667 3 2015 2020
dbSNP: rs121913500
rs121913500
IDH1
83 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2020 2020
dbSNP: rs13426236
rs13426236
MLPH
2 0.925 0.080 2 237539297 intron variant A/G snv 0.32 0.010 1.000 1 2020 2020
dbSNP: rs35672330
rs35672330
EXO5
2 0.925 0.080 1 40514996 missense variant T/C snv 4.4E-02 4.4E-02 0.010 1.000 1 2020 2020
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs919467999
rs919467999
ERG
2 0.925 0.080 21 38383632 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs138213197
rs138213197
HOXB13
19 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.800 0.935 31 2012 2019
dbSNP: rs10993994
rs10993994
MSMB
10 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 26 2008 2019
dbSNP: rs486907
rs486907
RNASEL
31 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.100 0.708 24 2002 2019
dbSNP: rs2735839
rs2735839 		5 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.800 0.923 12 2008 2019
dbSNP: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.080 0.875 8 2004 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.070 0.714 7 2009 2019
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.060 1.000 6 2011 2019
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.050 1.000 5 2005 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.050 0.800 5 2007 2019
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.050 0.800 5 2010 2019
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.040 0.750 4 2006 2019
dbSNP: rs12529
rs12529
AKR1C3
10 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 0.030 1.000 3 2013 2019
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.030 0.667 3 2004 2019
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.030 0.667 3 2011 2019
dbSNP: rs2551188
rs2551188
CYP1B1 ; CYP1B1-AS1
2 0.925 0.080 2 38075651 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2008 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.030 1.000 3 2015 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2008 2019