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: rs276174819
rs276174819
BRCA2
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs886037798
rs886037798
BRCA2
2 1.000 13 32340886 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs886037786
rs886037786
BRCA1
2 1.000 17 43094231 frameshift variant -/G delins 0.700 1.000 1 2016 2016
dbSNP: rs1555281594
rs1555281594
BRCA2
2 1.000 13 32332276 frameshift variant -/G delins 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
1 17 39724750 inframe insertion -/GCTCCCCAG delins 0.700 1.000 1 2013 2013
dbSNP: rs1555526250
rs1555526250
TP53
1 17 7675191 frameshift variant -/GGTCT delins 0.700 0
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
6 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80359706
rs80359706
BRCA2
3 1.000 13 32363522 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs80357714
rs80357714
BRCA1
4 0.925 0.200 17 43094150 frameshift variant -/T delins 0.700 0
dbSNP: rs886037788
rs886037788
BRCA1
1 17 43091461 frameshift variant -/TCAA ins 0.700 1.000 1 2016 2016
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
2 1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 0.700 1.000 1 2014 2014
dbSNP: rs864622401
rs864622401
BRCA2
4 0.882 0.200 13 32339092 frameshift variant -/TG delins 0.700 0
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 4 1999 2010
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs483353111
rs483353111
BRCA2
3 0.925 0.200 13 32336949 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs886037784
rs886037784
BRCA1
2 1.000 17 43099803 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037790
rs886037790
BRCA1
2 1.000 17 43071202 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037804
rs886037804
BRCA2
2 1.000 13 32379805 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886040109
rs886040109
BRCA1
2 1.000 17 43092265 frameshift variant A/- delins 0.700 0
dbSNP: rs121913282
rs121913282
PIK3CA
4 0.882 0.040 3 179221072 missense variant A/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016