Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs314276
LIN28B
0.807 0.280 6 104960124 intron variant A/C snv 0.65 8
rs2410373 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 6
rs2296972
HTR2A-AS1 ; HTR2A
0.925 0.080 13 46854336 intron variant A/C snv 0.70 4
rs3814057
NR1I2
0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28 4
rs3864659
AGO2
0.925 0.080 8 140545763 intron variant A/C snv 0.16 4
rs1042667
SOX9-AS1 ; SOX9
1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 3
rs2231292
BCL2L10
1.000 0.040 15 52112665 missense variant A/C snv 0.41 0.48 3
rs1056628
SLC12A5-AS1 ; MMP9
20 46016407 3 prime UTR variant A/C snv 2
rs1190488467
PTPN13
4 86701433 missense variant A/C snv 8.1E-06 2
rs728619
FBXO11 ; MSH6
2 47799596 missense variant A/C snv 2
rs867537050
KMT2D
12 49050951 missense variant A/C snv 2
rs15561
NAT1
8 18223142 3 prime UTR variant A/C snv 0.64 1
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 45
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 20
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 19
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 17
rs2227981
LOC105373977 ; PDCD1
0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 12
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs1997623
CAV1
0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 9
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs11249433
EMBP1
0.827 0.160 1 121538815 intron variant A/C;G snv 8
rs74790047
CHD4
0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 7
rs41277434
EZH2
0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06 6
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6