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: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
TP53
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
TP53
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
TP53
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs141877527
rs141877527 		1 1.000 0.080 10 33497992 intergenic variant A/G snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2012 2012
dbSNP: rs4760
rs4760
PLAUR
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs6790167
rs6790167
TP63
5 0.827 0.080 3 189869485 intron variant A/G snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs716274
rs716274 		1 1.000 0.080 11 103547430 intergenic variant A/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs8049634
rs8049634
ADAD2 ; LOC654780
1 1.000 0.080 16 84192073 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs859
rs859
IL16 ; STARD5
6 0.807 0.200 15 81308981 3 prime UTR variant A/G snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs141670911
rs141670911 		1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
TP53
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016