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: rs9609538
rs9609538
RTCB ; BPIFC
2 0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs1649942
rs1649942
NRG3
3 0.925 0.120 10 82191935 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1834481
rs1834481
IL18
3 0.882 0.160 11 112153104 non coding transcript exon variant C/G snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs192876988
rs192876988
LOC105377300
3 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2252673
rs2252673
INSR
3 0.882 0.120 19 7150407 intron variant C/G snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs6704688
rs6704688
CASP8
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1801368
rs1801368
MAD1L1
4 0.851 0.160 7 1936821 missense variant C/G;T snv 0.35 0.29 0.010 1.000 1 2013 2013
dbSNP: rs4987208
rs4987208
RAD52
4 0.851 0.160 12 913403 stop gained A/C snv 3.5E-02 2.1E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 0.010 1.000 1 2011 2011
dbSNP: rs757210
rs757210
HNF1B
4 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 1 2013 2015
dbSNP: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs11651755
rs11651755
HNF1B
5 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs1243180
rs1243180
MLLT10
5 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.710 1.000 1 2013 2015
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs533117495
rs533117495
ABCB1
5 0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs755378873
rs755378873
SLC13A5
5 0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs370681
rs370681
AXIN1
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs17401966
rs17401966
KIF1B
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2660753
rs2660753 		8 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs314276
rs314276
LIN28B
8 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs2303428
rs2303428
MSH2
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019