Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 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
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 2
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins 4
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs587776783
LOC112268118 ; RB1
0.851 0.200 13 48373493 splice donor variant G/A snv 5
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 6
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14