Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 13
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 10
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 93
rs201745983
ALDH2
0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 14
rs16941667
ALDH2
0.925 0.080 12 111806609 intron variant C/T snv 8.6E-02 2
rs1279599
AMD1
0.925 0.080 6 110879025 intron variant G/A snv 0.87 2
rs7768897
AMD1
0.925 0.080 6 110891080 non coding transcript exon variant A/G;T snv 2
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2279284
ARNTL
0.925 0.080 11 13277203 intron variant C/T snv 0.25 2
rs79402775
ATF2 ; MIR933
0.827 0.200 2 175167648 mature miRNA variant G/A;T snv 4.4E-02; 1.0E-05 5
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs911160
AURKA
0.925 0.080 20 56382507 intron variant G/A;C snv 2
rs2241909
AURKB
0.925 0.080 17 8205021 synonymous variant G/A snv 0.66 0.64 2
rs2289590
AURKB
0.925 0.080 17 8207446 intron variant C/A snv 0.54 2
rs11084490
AURKC
0.925 0.080 19 57231104 5 prime UTR variant G/A;C;T snv 0.87; 3.8E-05 2
rs758099
AURKC
0.925 0.080 19 57231966 intron variant C/G;T snv 2
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 70
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs2296147
BIVM-ERCC5 ; ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 21
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs80358829
BRCA2
0.827 0.120 13 32340327 missense variant C/T snv 6
rs1044432
BTBD10
0.925 0.080 11 13388251 3 prime UTR variant A/T snv 0.16 2
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41