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: rs680055
rs680055
CYP3A43
5 0.851 0.120 7 99859982 missense variant C/A;G snv 6.5E-02 0.13 0.010 1.000 1 2005 2005
dbSNP: rs765521022
rs765521022
KLK3
4 0.851 0.080 19 50858171 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs968098233
rs968098233
AR
3 0.882 0.200 X 67546162 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs41341748
rs41341748
MSR1
6 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.060 1.000 6 2004 2006
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 2000 2006
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.030 1.000 3 2000 2006
dbSNP: rs72552387
rs72552387
MSR1
3 0.882 0.080 8 16168568 missense variant C/A;G;T snv 1.6E-03; 4.0E-06 0.030 1.000 3 2003 2006
dbSNP: rs1374051619
rs1374051619
ELAC2
5 0.827 0.080 17 12995026 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1424375643
rs1424375643
OGG1
2 0.925 0.080 3 9751856 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs202173505
rs202173505
SNRNP70
2 0.925 0.080 19 49108358 missense variant G/A snv 8.3E-05 9.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs2664155
rs2664155
KLK2
2 0.925 0.080 19 50873774 non coding transcript exon variant G/A snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs28757184
rs28757184
CYP19A1 ; MIR4713HG
2 0.925 0.080 15 51222375 missense variant G/A;T snv 2.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs5490
rs5490
ICAM1 ; LOC105372272
2 0.925 0.080 19 10271151 5 prime UTR variant A/C snv 1.6E-02 6.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2006 2006
dbSNP: rs76826147
rs76826147
EPHB2
3 0.882 0.080 1 22913757 stop gained A/G;T snv 4.2E-06; 2.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs7978742
rs7978742
LOC105369944
2 0.925 0.080 12 102497974 regulatory region variant A/G snv 0.14 0.010 1.000 1 2006 2006
dbSNP: rs925013
rs925013
LOC105372441
2 0.925 0.080 19 50850345 intron variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.020 1.000 2 2002 2007
dbSNP: rs137852581
rs137852581
AR
5 0.882 0.080 X 67723701 missense variant C/T snv 0.020 1.000 2 1997 2007
dbSNP: rs45609334
rs45609334
HSD3B1
2 0.925 0.080 1 119514623 missense variant C/A snv 0.76 0.020 1.000 2 2002 2007
dbSNP: rs1016342
rs1016342
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
1 1.000 0.080 8 127080210 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1031588
rs1031588
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
1 1.000 0.080 8 127081032 non coding transcript exon variant C/A snv 0.24 0.700 1.000 1 2007 2007
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2007 2007