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: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
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: 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: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;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: 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: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
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: rs13113999
rs13113999 		1 1.000 0.040 4 166265894 intergenic variant T/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 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: 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: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs37792
rs37792 		1 1.000 0.040 5 53348817 intergenic variant G/A snv 0.67 0.700 1.000 1 2019 2019
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: rs7725218
rs7725218
TERT
17 0.708 0.280 5 1282299 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016
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: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs147527678
rs147527678 		17 0.708 0.280 6 32699696 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016