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: rs144567652
rs144567652
FANCM
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.020 1.000 2 2015 2017
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs398122697
rs398122697
BRCA1
2 0.925 0.080 17 43049170 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80357007
rs80357007
BRCA1
1 1.000 0.080 17 43051107 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs152451
rs152451
PALB2
1 1.000 0.080 16 23634870 missense variant T/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs45551636
rs45551636
PALB2
1 1.000 0.080 16 23622972 missense variant C/G;T snv 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1060915
rs1060915
BRCA1
1 1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2014 2014
dbSNP: rs12516
rs12516
BRCA1
4 0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 0.010 1.000 1 2014 2014
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs11075884
rs11075884 		1 1.000 0.080 16 71321332 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs17663555
rs17663555
LOC105379030
3 1.000 0.080 5 73136209 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs3112612
rs3112612
CASC16
3 0.882 0.080 16 52601252 intron variant G/A snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs566164
rs566164
CCDC162P
2 1.000 0.080 6 109185258 intron variant A/G snv 0.73 0.010 1.000 1 2013 2013
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012