Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 14
rs6147150
ERBB4
0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 5
rs57408770
MIR3131 ; IHH
1.000 0.080 2 219058688 non coding transcript exon variant -/AAG delins 2
rs34000982
HMGB1
1.000 0.080 13 30459175 3 prime UTR variant -/ATTA delins 0.28 1
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs3917
COL1A2
0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 3
rs56228771
SGSM3 ; MRTFA
0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 5
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs112395617
RAVER2 ; JAK1
1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 1
rs28381975
PDCD6IP ; LOC105377023
0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins 4
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs735482
CD3EAP ; ERCC1
0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs7763881
HULC ; LOC100506207
0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 11
rs12304647
MIR196A2 ; HOXC6
0.807 0.160 12 53991163 intron variant A/C snv 0.26 6
rs1990172
MACC1
0.827 0.120 7 20164512 intron variant A/C snv 0.27 6
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 4
rs765660823
DDR2
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 4
rs3859501
MIR371B ; MIR373 ; MIR372 ; MIR371A
0.882 0.120 19 53788157 non coding transcript exon variant A/C snv 0.43 3
rs7719521
SPARC
0.882 0.120 5 151669843 intron variant A/C snv 0.65 3
rs12438080
CERS3
1.000 0.080 15 100541858 intron variant A/C snv 0.50 2
rs2242241
DOK2
0.925 0.200 8 21909370 missense variant A/C snv 1.0E-02 7.9E-03 2
rs4309483 0.925 0.120 18 58418685 downstream gene variant A/C snv 0.70 2
rs7628626
TIMMDC1 ; CD80
0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 2