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: 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: 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: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.020 1.000 2 2011 2012
dbSNP: rs8100241
rs8100241
USHBP1 ; ANKLE1
5 0.827 0.120 19 17282085 missense variant G/A snv 0.47 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.020 1.000 2 2010 2019
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: rs587781948
rs587781948
BARD1
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs587780021
rs587780021
BARD1
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs13000023
rs13000023
LOC101928278 ; LOC105373873
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019
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: 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: rs527616
rs527616
AQP4-AS1
4 0.851 0.080 18 26757460 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1436904
rs1436904
CHST9 ; AQP4-AS1
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.010 1.000 1 2017 2017
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: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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: rs397507758
rs397507758
BRCA2
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014
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: rs564064363
rs564064363
ERBB2
4 0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05 0.010 1.000 1 2017 2017
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: rs1485579458
rs1485579458
ERBB2
4 0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs142030651
rs142030651
EP300
4 0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03 0.010 1.000 1 2018 2018