Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs375129361
BAP1
0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06 1
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
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del 1
rs879255658
FLCN
0.882 0.160 17 17228135 start lost C/G snv 1
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 1
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv 1
rs121913669
MET
0.925 0.120 7 116782027 missense variant G/A;T snv 4.0E-06 1
rs121913673
MET
0.925 0.120 7 116782048 missense variant C/G;T snv 1
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs5030805
VHL
0.790 0.280 3 10142086 missense variant G/A;T snv 1
rs869025668
VHL
0.882 0.240 3 10149964 stop lost G/T snv 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs750380279
CCDC127 ; SDHA
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 2
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 2
rs121913668
MET
0.882 0.120 7 116778827 missense variant T/C snv 2
rs121913670
MET
0.925 0.120 7 116783329 missense variant G/A snv 2
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 2
rs1131691061
SDHB
0.827 0.280 1 17054017 start lost C/T snv 2