Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs629849
IGF2R
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 8
rs2250889
SLC12A5-AS1 ; MMP9
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 23
rs4149117
SLCO1B3-SLCO1B7 ; SLCO1B3
0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs373572
RAD18
0.882 0.120 3 8913705 missense variant C/T snv 0.68 0.70 6
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs523349
SRD5A2
0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 21
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 13
rs3740530
HABP2
1.000 0.080 10 113574365 synonymous variant C/T snv 0.63 0.55 2
rs2286742
HABP2
1.000 0.080 10 113580733 intron variant G/A;C snv 0.57; 8.2E-06 2
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 106
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs2230774
ROCK2
0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 12
rs172378
C1QA
0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 11
rs4461062
NUP93
1.000 0.080 16 56830706 intron variant C/T snv 0.48 0.48 2
rs1347591
NUP93
1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 2
rs2229080
DCC
0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 16
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 110
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs16940
BRCA1
0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 5
rs11788747
RECK
0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 6
rs895819
MIR23A ; LOC284454 ; MIR27A ; MIR24-2
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs746429
SIPA1
0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30 8