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: rs863225441
rs863225441
MRE11
1 1.000 0.080 11 94470587 missense variant G/A;C snv 0.700 0
dbSNP: rs10274701
rs10274701
EZH2
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1064793309
rs1064793309
BRCA1
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs148047459
rs148047459
MUL1
2 0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1651654
rs1651654
C16orf87
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs184967
rs184967
MSH3
2 0.925 0.080 5 80854162 missense variant A/G;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs2077197
rs2077197
PARP1
2 0.925 0.080 1 226408338 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2278256
rs2278256
BABAM1 ; USHBP1
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2491231
rs2491231
FLT3
2 0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61 0.010 1.000 1 2019 2019
dbSNP: rs473543
rs473543
ATG5
2 0.925 0.080 6 106327811 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs527779103
rs527779103
ERBB2
2 0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs552752779
rs552752779
BRIP1
2 0.925 0.080 17 61784427 splice region variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs635538
rs635538
TCF4 ; LOC105372126
2 0.925 0.080 18 55606383 intron variant G/A snv 0.94 0.010 1.000 1 2018 2018
dbSNP: rs718282
rs718282 		2 0.925 0.080 7 152638744 intergenic variant A/G snv 0.94 0.010 1.000 1 2015 2015
dbSNP: rs7250266
rs7250266
BABAM1 ; USHBP1
2 0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs72631823
rs72631823
MIR34A ; MIR34AHG
2 0.925 0.080 1 9151723 non coding transcript exon variant C/T snv 1.2E-04 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs7527192
rs7527192
PARP1
2 0.925 0.080 1 226408378 upstream gene variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs769772228
rs769772228
CXCR4
2 0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs772885662
rs772885662
BRCA1
2 0.925 0.080 17 43063911 synonymous variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs80350973
rs80350973
LOC730100
2 0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs1235679626
rs1235679626
MORC2
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs769483475
rs769483475
CD44
3 0.925 0.080 11 35229231 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs780439043
rs780439043
EGFR
3 0.925 0.080 7 55205301 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1064793184
rs1064793184
MSH6 ; FBXO11
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014