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: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs9375701
rs9375701
L3MBTL3
6 0.827 0.160 6 130062912 intron variant C/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs9303542
rs9303542
SKAP1
3 0.882 0.120 17 48334138 intron variant A/G snv 0.34 0.700 1.000 2 2010 2013
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.020 1.000 2 2017 2018
dbSNP: rs9110
rs9110
LTF
4 0.851 0.200 3 46439310 missense variant A/C;G;T snv 0.39 0.40 0.010 1.000 1 2011 2011
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs886039920
rs886039920
BRCA1
7 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 0.020 0.500 2 2007 2010
dbSNP: rs879255288
rs879255288
BRCA1
3 0.882 0.120 17 43094789 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2015
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs876658943
rs876658943
BRCA2
3 0.882 0.120 13 32332593 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs873330
rs873330
LOC107984606
3 0.882 0.120 13 104807897 intergenic variant A/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs869312774
rs869312774
PALB2
3 0.925 0.160 16 23614019 frameshift variant T/- delins 0.700 0
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 0.667 3 2014 2016
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs80359477
rs80359477
BRCA2
5 0.851 0.200 13 32339386 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs80359176
rs80359176
BRCA2
1 1.000 0.120 13 32380076 missense variant C/T snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs80359078
rs80359078
BRCA2
3 0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0