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: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.020 1.000 2 2010 2014
dbSNP: rs13283662
rs13283662
UHRF2
4 0.925 0.080 9 6428530 intron variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs17506395
rs17506395
TP63
3 0.925 0.080 3 189803530 intron variant T/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs2787486
rs2787486
STXBP4
3 0.925 0.080 17 55132413 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 < 0.001 1 2016 2016
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs7716600
rs7716600 		4 0.925 0.080 5 44874903 regulatory region variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1555599208
rs1555599208
BRCA1
2 1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 0.700 1.000 1 2016 2016
dbSNP: rs273898674
rs273898674
BRCA1
4 0.925 0.200 17 43093472 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs397507828
rs397507828
BRCA2
4 1.000 13 32340440 stop gained G/T snv 0.700 1.000 1 2004 2004
dbSNP: rs397508983
rs397508983
BRCA1
2 1.000 17 43092959 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs771203198
rs771203198
BRCA2
3 0.925 0.200 13 32394750 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786201059
rs786201059
TP53
20 0.701 0.360 17 7673764 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80357167
rs80357167
BRCA1
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80357303
rs80357303
BRCA1
4 0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80357481
rs80357481
BRCA1
5 0.882 0.200 17 43094317 stop gained G/C;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80358529
rs80358529
BRCA2
4 0.925 0.200 13 32319283 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 1 2016 2016