Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519973
ELOC
1.000 0.120 8 73946733 missense variant T/A;G snv 1
rs1057519974
ELOC
1.000 0.120 8 73946734 missense variant A/T snv 1
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519992
TP53
0.742 0.400 17 7674890 missense variant T/A;C;G snv 14
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs1060502375
FLCN
0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 3
rs1064794272
VHL
0.807 0.240 3 10146566 missense variant C/A snv 6
rs10771279
ITPR2
0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 2
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs10936602
LRRIQ4
0.882 0.240 3 169818849 upstream gene variant T/C snv 0.26 3
rs11125068
EPAS1
1.000 0.120 2 46300677 intron variant A/G snv 0.62 1
rs11203289
SDHB
0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 3
rs11263654 1.000 0.120 11 69423355 upstream gene variant C/T snv 0.11 1
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del 3
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv 6
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77