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: rs786203411
rs786203411
BRCA2
2 0.925 0.120 13 32398582 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs202155613
rs202155613
BRCA2
3 0.882 0.200 13 32379902 stop gained C/A;G;T snv 4.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs397509430
rs397509430
HBB
3 0.882 0.200 11 5227101 5 prime UTR variant A/- del 0.010 1.000 1 2015 2015
dbSNP: rs281864525
rs281864525
HBB
4 0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs34500389
rs34500389
HBB
4 0.851 0.280 11 5227103 5 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs55971303
rs55971303
BRCA1
4 0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs56187033
rs56187033
BRCA1
4 0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs137852576
rs137852576
AR
5 0.827 0.240 X 67686067 missense variant G/A snv 0.030 1.000 3 1993 1999
dbSNP: rs183433761
rs183433761
GCG ; LOC101929532
5 0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs200487063
rs200487063
LEP
5 0.851 0.200 7 128241246 upstream gene variant G/A snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs201739205
rs201739205
HSD17B1 ; LOC108783654
5 0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs33980857
rs33980857
HBB
5 0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs33981098
rs33981098
HBB
5 0.827 0.280 11 5227102 5 prime UTR variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs34104384
rs34104384
LEP
5 0.851 0.200 7 128241254 upstream gene variant A/T snv 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs35036378
rs35036378
ESR2
5 0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs9383938
rs9383938
ESR1
5 0.827 0.160 6 151666222 intron variant G/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs137852573
rs137852573
AR
6 0.807 0.280 X 67686064 missense variant G/A snv 0.020 1.000 2 1997 1999
dbSNP: rs1314913
rs1314913
RAD51B
6 0.807 0.120 14 68232877 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2588809
rs2588809
RAD51B
6 0.807 0.160 14 68193711 intron variant T/C snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs33931746
rs33931746
HBB
6 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs34166473
rs34166473
HBD
6 0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs35518301
rs35518301
HBD
6 0.827 0.200 11 5234514 5 prime UTR variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs6504950
rs6504950
STXBP4
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs137852593
rs137852593
AR
8 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.010 1.000 1 2003 2003
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.010 1.000 1 2011 2011