Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 1
rs1057520036
FGFR4
0.925 0.080 5 177093180 missense variant A/G snv 1
rs1057519727
HERC2
15 28260829 missense variant A/G snv 1
rs1555444543
HERC2
15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 1
rs752908306
HERC2
15 28272372 missense variant G/A;C snv 8.0E-06 1
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs1057519737
MIR4728 ; ERBB2
17 39724750 inframe insertion -/GCTCCCCAG delins 1
rs1555458822
PALB2
16 23614062 frameshift variant T/- delins 1
rs1555461693
PALB2
16 23635903 stop gained C/A snv 1
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv 1
rs121913285
PIK3CA
3 179218286 missense variant C/G snv 1
rs121913288
PIK3CA
1.000 0.200 3 179234219 missense variant A/G snv 1
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 1
rs1554897879
PTEN
10 87931085 stop gained C/A snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1555526250
TP53
17 7675191 frameshift variant -/GGTCT delins 1
rs587782620
TP53
17 7675185 missense variant C/A;T snv 1
rs1057517590
BRCA1
1.000 17 43063370 frameshift variant A/- del 2
rs1060505051
BRCA1
1.000 17 43091883 frameshift variant AAGTT/- delins 2
rs1555581104
BRCA1
1.000 17 43071235 frameshift variant CC/- delins 2
rs1555599208
BRCA1
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 2
rs397508940
BRCA1
1.000 17 43104958 splice acceptor variant T/C;G snv 2
rs397508983
BRCA1
1.000 17 43092959 stop gained G/A;C snv 4.0E-06 2
rs397509160
BRCA1
1.000 17 43082474 stop gained G/A;T snv 2
rs80357167
BRCA1
1.000 17 43094066 stop gained C/A;T snv 2