Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35697691
LOC112268150 ; MAPK6
15 52061301 missense variant C/G snv 5.8E-02 5.9E-02 3
rs371217738
ADRA2B
2 96115056 missense variant C/A;T snv 8.1E-06 3
rs371402182
PMS2
1.000 7 5999167 missense variant A/G snv 3
rs375526265
APEX1
14 20457260 missense variant C/T snv 1.2E-05 2.8E-05 3
rs397508938
BRCA1
1.000 17 43106457 frameshift variant T/-;TT delins 3
rs397509239
BRCA1
1.000 17 43057122 frameshift variant A/- del 3
rs4524
F5
1 169542517 missense variant T/C snv 0.28 0.24 3
rs4869272
MIR583HG ; LOC101929710
5 96203744 intron variant C/T snv 0.72 3
rs4940177
DCC
18 52342374 intron variant T/C;G snv 3
rs556324078
EGFR
7 55205514 missense variant T/C snv 4.0E-06 3
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv 3
rs587777472
POT1
1.000 7 124863630 missense variant T/C snv 4.1E-06 3
rs61735836
FTCD-AS1 ; FTCD
21 46152973 missense variant C/T snv 5.7E-02 5.6E-02 3
rs6787344 3 186622052 intron variant G/C snv 0.19 3
rs74751600
CHEK2
22 28695852 missense variant T/C snv 3
rs750600586
TP53
17 7675199 missense variant G/A;T snv 3
rs755683317
TPTE
21 10567746 missense variant G/A;C snv 2.4E-05 3
rs761546875
MDM2
12 68816914 missense variant G/C snv 4.0E-06 3
rs767543501
MUL1
1 20502133 missense variant C/A;G snv 4.0E-06; 1.6E-05 3
rs771246666
DRD5 ; SLC2A9
4 9783122 frameshift variant T/- delins 4.4E-05 3
rs864622017
E2F1
20 33679830 missense variant C/T snv 3
rs868047715
KDR
4 55089696 missense variant G/A snv 3
rs886039925
BRCA1
1.000 17 43094481 frameshift variant TC/- delins 3
rs961150162
EGFR
7 55198779 missense variant G/A;C snv 3
rs1012049
PTPRK
6 128209162 intron variant G/A snv 0.44 2