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: rs985033810
rs985033810
TP53
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
TP53
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs942158624
rs942158624
TP53
19 0.724 0.320 17 7674948 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
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: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876659802
rs876659802
TP53
16 0.732 0.440 17 7673787 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876659675
rs876659675
TP53
8 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876658468
rs876658468
TP53
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs868162712
rs868162712
TCF4
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 < 0.001 1 2002 2002
dbSNP: rs867657798
rs867657798
TCF4
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs863224451
rs863224451
TP53
20 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2008 2014
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs80359183
rs80359183
BRCA2
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2000 2000
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: rs786202962
rs786202962
TP53
21 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786201838
rs786201838
TP53
24 0.683 0.440 17 7674953 missense variant T/A;C;G snv 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: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs779707422
rs779707422
FGFR1
12 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs777169839
rs777169839
PPARGC1A
2 4 23828453 missense variant T/C;G snv 2.4E-05 0.010 1.000 1 2019 2019