Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs8098244
rs8098244
LAMA3
2 0.925 0.120 18 23825589 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs711830
rs711830
HOXD3 ; HAGLR
3 0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs57403204
rs57403204 		1 1.000 0.040 X 141990766 intron variant A/G snv 3.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs75316749
rs75316749
LOC107986051
18 0.701 0.280 3 169043635 intergenic variant A/G snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs9870207
rs9870207 		1 1.000 0.040 3 190807727 intergenic variant A/G snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs66459581
rs66459581
PRPSAP1
1 1.000 0.040 17 76359184 intron variant C/- del 0.11 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs199897804
rs199897804
CDKL5
1 1.000 0.040 X 18604645 missense variant C/A;T snv 4.9E-05 0.700 0
dbSNP: rs540521894
rs540521894
NTRK1
1 1.000 0.040 1 156864760 missense variant C/A;T snv 4.0E-06; 5.6E-05 2.1E-05 0.700 0
dbSNP: rs746442213
rs746442213
ALK
1 1.000 0.040 2 29232307 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1490428165
rs1490428165
TEK
1 1.000 0.040 9 27209192 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs150293538
rs150293538
LINC01111
1 1.000 0.040 8 76408119 intron variant C/T snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs73110464
rs73110464
KRT8
17 0.708 0.280 12 52918828 intron variant C/T snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs7902587
rs7902587 		2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017