Disease: ovarian neoplasm
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 8
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
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 22
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
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs1271572
ESR2
0.708 0.400 14 64295199 intron variant A/C;T snv 16
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
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
rs115392158
HLA-B
0.708 0.280 6 31347004 intron variant A/G snv 17
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
rs141752671 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 17
rs1467465
THEMIS2
0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 7
rs147680653 0.708 0.280 6 29785031 intergenic variant A/G snv 17
rs148883465 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 17
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17251221
CASR
0.724 0.360 3 122274400 intron variant A/G snv 0.11 18