Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins 2
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 4
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs886040340
BRCA2
0.882 0.080 13 32319111 frameshift variant -/C delins 3
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 4
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 2
rs3215684
PTPN1
0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 2
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs1414323823
CYP1A1
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 4
rs113211432
BARD1
0.882 0.080 2 214767532 frameshift variant -/TG delins 3
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs28381975
PDCD6IP ; LOC105377023
0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs5780218
KISS1
0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 4
rs886039958
BRCA1
0.882 0.080 17 43093956 frameshift variant A/-;AA delins 3
rs5186
AGTR1
0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs4646
MIR4713HG ; CYP19A1
0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs1333048
CDKN2B-AS1
0.683 0.320 9 22125348 intron variant A/C snv 0.44 14
rs4968451
BRIP1
0.732 0.160 17 61849946 intron variant A/C snv 0.15 13
rs1204382931
CYP1B1 ; CYP1B1-AS1
0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 10
rs6498486
ERCC4
0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 8
rs1990172
MACC1
0.827 0.120 7 20164512 intron variant A/C snv 0.27 6