Disease: ovarian neoplasm
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs67164370
RASSF2
0.851 0.120 20 4787830 intron variant -/AGGGACT ins 4
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs200182588
SMC2-AS1 ; SMC2
0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs80357517
BRCA1
0.827 0.200 17 43092277 frameshift variant -/T delins 5
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs190900046
BRCA1
0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05 5
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs7260002
CGB5
0.882 0.120 19 49042615 non coding transcript exon variant A/C;G snv 0.46 3
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs80357327
BRCA1
0.827 0.200 17 43115730 missense variant A/C;G;T snv 6
rs1271572
ESR2
0.708 0.400 14 64295199 intron variant A/C;T snv 16
rs1801243
ATP7B
0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05 4
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 4
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs80357115
BRCA1
0.790 0.200 17 43092597 stop gained A/C;T snv 8
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs11782652
CHMP4C
0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs13281615
CASC8 ; POU5F1B ; PCAT1 ; CASC21
0.716 0.360 8 127343372 intron variant A/G snv 0.43 18