Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
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
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