Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1950902
MTHFD1
0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 1
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 1
rs1554298756
PMS2
1.000 0.080 7 5989891 frameshift variant C/- del 1
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25 1
rs187084
TLR9
0.641 0.480 3 52227015 intron variant A/G snv 0.38 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 1
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs6854845 0.827 0.080 4 74821455 intergenic variant G/T snv 0.13 2
rs869312783
BMPR1A
1.000 0.080 10 86892181 frameshift variant -/TTAG delins 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs431825362
BRCA2
0.925 0.080 13 32363187 missense variant C/A;T snv 4.0E-06; 4.0E-06 2
rs10222633
CASR
0.925 0.080 3 122258079 intron variant G/A snv 0.45 2
rs10934578
CASR
0.925 0.080 3 122258435 intron variant G/T snv 0.30 2
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 2
rs119490107
FSBP ; RAD54B
0.925 0.080 8 94399540 missense variant C/A snv 2.8E-05 2
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 2
rs1057519725
KRAS
0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 2
rs16906252
MGMT
0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 2
rs12591359
MIR4713HG ; CYP19A1
0.925 0.080 15 51247171 intron variant G/A snv 0.41 2
rs1553651073
MLH1
0.925 0.160 3 37025834 frameshift variant CA/- delins 2
rs587779018
MLH1
0.925 0.160 3 37008855 frameshift variant T/-;TT delins 2
rs869312768
MSH2
0.925 0.160 2 47429865 frameshift variant -/TT delins 2