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: 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: rs146314922
rs146314922
NLRP2
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs147961867
rs147961867
MAPK3
3 0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs149652370
rs149652370
RUVBL1
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1596797
rs1596797
MUC16
2 0.925 0.120 19 8977341 missense variant T/A;C;G snv 2.0E-05; 4.0E-06; 0.74 0.010 < 0.001 1 2011 2011
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: 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: rs17329882
rs17329882
SYNPO2
2 0.925 0.120 4 119028805 intron variant A/C;T snv 0.010 1.000 1 2017 2017
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: rs1805129
rs1805129
CHEK2
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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: rs2190503
rs2190503
GRB10
2 0.925 0.120 7 50674920 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2228026
rs2228026
TEP1
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
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: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013