Gene: PALB2 ×
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: rs180177132
rs180177132
PALB2
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.730 1.000 5 2010 2016
dbSNP: rs515726123
rs515726123
PALB2
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.710 1.000 4 2010 2018
dbSNP: rs180177133
rs180177133
PALB2
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs769240800
rs769240800
PALB2
3 0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06 0.700 0
dbSNP: rs16940342
rs16940342
PALB2
2 0.925 0.080 16 23633265 intron variant A/C;G;T snv 0.020 1.000 2 2008 2018
dbSNP: rs180177111
rs180177111
PALB2
7 0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs180177143
rs180177143
PALB2
4 0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05 0.020 1.000 2 2018 2019
dbSNP: rs249935
rs249935
PALB2
3 0.925 0.080 16 23613903 intron variant T/C snv 0.13 0.020 1.000 2 2016 2018
dbSNP: rs249954
rs249954
PALB2
3 0.925 0.080 16 23629146 intron variant G/A snv 0.31 0.020 1.000 2 2008 2016
dbSNP: rs447529
rs447529
PALB2
2 0.925 0.080 16 23622102 intron variant C/G snv 0.13 0.020 1.000 2 2010 2018
dbSNP: rs778345761
rs778345761
PALB2
5 0.925 0.080 16 23614091 stop gained C/T snv 0.020 1.000 2 2010 2013
dbSNP: rs13330119
rs13330119
PALB2
2 0.925 0.080 16 23618750 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs141047069
rs141047069
PALB2
3 0.925 0.080 16 23638074 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1488792693
rs1488792693
PALB2
2 0.925 0.080 16 23636036 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs180177097
rs180177097
PALB2
5 0.882 0.080 16 23635519 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs180177110
rs180177110
PALB2
4 0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs515726124
rs515726124
PALB2
2 0.925 0.080 16 23636036 frameshift variant CT/- delins 0.010 1.000 1 2019 2019
dbSNP: rs57605939
rs57605939
PALB2
2 0.925 0.080 16 23635917 missense variant G/A snv 4.8E-03 2.1E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs760094988
rs760094988
PALB2
3 0.925 0.080 16 23630235 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8053188
rs8053188
PALB2 ; DCTN5
2 0.925 0.080 16 23641204 5 prime UTR variant C/T snv 4.0E-02 5.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs879254154
rs879254154
PALB2
4 0.851 0.160 16 23621428 missense variant A/C;G snv 0.010 1.000 1 2015 2015