Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs953038635
SOD2
0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs9375701
L3MBTL3
0.827 0.160 6 130062912 intron variant C/T snv 0.53 6
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs9110
LTF
0.851 0.200 3 46439310 missense variant A/C;G;T snv 0.39 0.40 4
rs904571820
ESR1
0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 5
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 6
rs879255288
BRCA1
0.882 0.120 17 43094789 missense variant T/C;G snv 4.0E-06 3
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 4
rs876660702
BRCA1
0.851 0.160 17 43063333 splice region variant C/T snv 4
rs876658943
BRCA2
0.882 0.120 13 32332593 missense variant A/G snv 4.0E-06 3
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 24
rs874945 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 14
rs873330
LOC107984606
0.882 0.120 13 104807897 intergenic variant A/G snv 0.31 3
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 103
rs851797
EXO1
0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 13
rs8170
BABAM1 ; USHBP1
0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 12
rs8037137
RCCD1
0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 6
rs80359078
BRCA2
0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 2
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 3
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 10
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 6
rs80357517
BRCA1
0.827 0.200 17 43092277 frameshift variant -/T delins 3
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 2
rs80357327
BRCA1
0.827 0.200 17 43115730 missense variant A/C;G;T snv 3