Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 6
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 5
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 7
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 6
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 6
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 4
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 1
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs63750451
PMS2
0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 4
rs63750741
FBXO11 ; MSH6
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 4
rs587779287
FBXO11 ; MSH6
0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 1
rs63750114
MLH1
0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 1