Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs2227982
LOC105373977 ; PDCD1
0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 24
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 17
rs6165
FSHR
0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 14
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8
rs1836724
ERBB4
0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 6
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 6
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 4
rs63750843
MSH2
0.925 0.240 2 47410235 stop gained C/G;T snv 1.6E-05 4
rs63751411
MSH2
0.925 0.240 2 47471041 stop gained G/A;T snv 4
rs11683487
NMI
0.882 0.120 2 151286035 intron variant G/T snv 0.36 3
rs4954956 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 3
rs6755777
HAGLROS ; HAGLR
0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 3
rs711830
HAGLR ; HOXD3
0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 3
rs74917072
UBE2F ; UBE2F-SCLY
0.882 0.120 2 238022053 intron variant G/A;T snv 3
rs1114167776
MSH6 ; FBXO11
1.000 0.120 2 47791020 frameshift variant -/T delins 2
rs2165109
MIR4435-2HG ; ACOXL
0.925 0.120 2 111061081 intron variant A/C snv 0.25 2
rs1558521605
MSH2
1.000 0.120 2 47478328 stop gained -/GTAG ins 1
rs1558656674
MSH6 ; FBXO11
1.000 0.120 2 47796010 inframe deletion AATTGGCAG/- delins 1
rs1558661873
FBXO11 ; MSH6
1.000 0.120 2 47799474 frameshift variant AAAGATGGCACATATATCCAAGTATGATA/- del 1
rs1558664251
MSH6 ; FBXO11
1.000 0.120 2 47800084 frameshift variant -/C ins 1
rs1558666905
MSH6 ; FBXO11
1.000 0.120 2 47800819 stop gained G/T snv 1