Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34852782
PRKAG2
0.925 0.120 7 151869086 intron variant -/A;AG ins 2
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 6
rs1194611372
S100A11
0.763 0.320 1 152032679 missense variant A/C snv 9
rs11141915
DAPK1
0.882 0.160 9 87620879 intron variant A/C snv 0.25 2
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 45
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs2239186
VDR
0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 5
rs879254154
PALB2
0.851 0.160 16 23621428 missense variant A/C;G snv 4
rs3790844
NR5A2
0.882 0.200 1 200038304 intron variant A/C;G snv 3
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 98
rs1859168
HOTTIP
0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 9
rs7310409
HNF1A
0.925 0.160 12 120987058 intron variant A/C;G;T snv 3
rs6475609
CDKN2B-AS1
0.925 0.120 9 22106272 intron variant A/C;G;T snv 2
rs2237895
KCNQ1
0.790 0.240 11 2835964 intron variant A/C;T snv 10
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 57
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 32
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs1223231582
PRSS1
0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 24