Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111970895 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 1
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 2
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs141752671 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 17
rs148883465 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 17
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs1565416788
ATM
1.000 0.120 11 108267302 frameshift variant TAGTGATGCAAAC/- del 1
rs1060501687
ATM
0.925 0.320 11 108272782 stop gained G/T snv 4.0E-06 7.0E-06 2
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 3
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 3
rs1565499148
ATM ; C11orf65
1.000 0.120 11 108315904 frameshift variant -/T delins 1
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 4
rs2165109
MIR4435-2HG ; ACOXL
0.925 0.120 2 111061081 intron variant A/C snv 0.25 2
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 73
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs459552
APC
0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 1
rs10260419
THSD7A
0.882 0.120 7 11524758 intron variant C/G snv 0.26 1
rs6134303 1.000 0.120 20 11586401 intergenic variant T/G snv 0.67 1
rs1791890
LOC107984393
1.000 0.120 11 116120763 intergenic variant A/G snv 0.44 1
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs145022376
ADARB2 ; LINC00200
1.000 0.120 10 1186289 intron variant C/- delins 9.1E-03 1
rs12031579 1.000 0.120 1 119307920 intron variant G/A snv 6.8E-02 1
rs66696671 1.000 0.120 10 119607441 intergenic variant G/T snv 0.25 1
rs7953249
HNF1A-AS1
0.882 0.160 12 120965921 splice region variant G/A snv 0.59 4