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: rs17106154
rs17106154
RAD51B
2 0.925 0.120 14 68694457 non coding transcript exon variant T/C snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs17250239
rs17250239
TRAF2
2 0.925 0.120 9 136902178 non coding transcript exon variant G/A snv 7.2E-02 0.010 1.000 1 2014 2014
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: rs17427875
rs17427875
HOXA11 ; HOXA11-AS
2 0.925 0.120 7 27185939 non coding transcript exon variant A/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs17507066
rs17507066
CHEK2
2 0.925 0.120 22 28696732 intron variant C/T snv 7.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs17702471
rs17702471
GPC6
2 0.925 0.120 13 93224864 upstream gene variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 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: rs1834481
rs1834481
IL18
5 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
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1955513
rs1955513
AKAP6
2 0.925 0.120 14 32706736 intron variant T/G snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1983383
rs1983383
CAPN13
2 0.925 0.120 2 30754766 intron variant C/A snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs2190503
rs2190503
GRB10
2 0.925 0.120 7 50674920 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2013 2013
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: rs2256787
rs2256787
ARHGEF10L
2 0.925 0.120 1 17566321 intron variant A/C snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 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: rs237028
rs237028
TAB2
2 0.925 0.120 6 149397514 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs2660753
rs2660753 		9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs2803073
rs2803073
PRKN
2 0.925 0.120 6 162541796 intron variant G/A snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs3087714
rs3087714
SULF1
2 0.925 0.120 8 69660769 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2012 2012