Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064796057
rs1064796057
MLH1
1 3 37011825 stop gained C/G;T snv 0.700 0
dbSNP: rs1064796190
rs1064796190
PMS2
1 7 5999158 stop gained C/A snv 0.700 0
dbSNP: rs1114167689
rs1114167689
MSH6 ; FBXO11
2 2 47791043 stop gained C/G snv 0.700 0
dbSNP: rs1114167696
rs1114167696
MSH6 ; FBXO11
2 2 47798791 frameshift variant A/- delins 0.700 0
dbSNP: rs1114167705
rs1114167705
MSH6 ; FBXO11
2 2 47803500 frameshift variant A/AA;TC delins 0.700 0
dbSNP: rs1114167715
rs1114167715
MSH6 ; FBXO11
2 2 47799432 frameshift variant GGAACAGACTGAGA/AGC delins 0.700 0
dbSNP: rs1114167724
rs1114167724
MSH6 ; FBXO11
2 2 47801047 stop gained G/T snv 0.700 0
dbSNP: rs1114167728
rs1114167728
MSH6 ; FBXO11
2 2 47791089 frameshift variant C/- del 0.700 0
dbSNP: rs1114167748
rs1114167748
MSH6 ; FBXO11
2 2 47798861 frameshift variant CTGTCA/TTCG delins 0.700 0
dbSNP: rs1114167756
rs1114167756
MSH6 ; FBXO11
2 2 47799226 stop gained C/T snv 0.700 0
dbSNP: rs1114167765
rs1114167765
MSH6 ; FBXO11
2 2 47799750 frameshift variant T/- del 0.700 0
dbSNP: rs1114167771
rs1114167771
MSH6 ; FBXO11
2 2 47800504 frameshift variant A/- del 0.700 0
dbSNP: rs1114167805
rs1114167805
MSH2
2 2 47475233 frameshift variant C/- del 0.700 0
dbSNP: rs1114167831
rs1114167831
MSH2
2 2 47408551 frameshift variant A/- del 0.700 0
dbSNP: rs1114167833
rs1114167833
MSH2
2 2 47445555 frameshift variant C/- delins 0.700 0
dbSNP: rs1114167877
rs1114167877
MSH2
2 2 47410251 frameshift variant GTGTGAAT/- delins 0.700 0
dbSNP: rs113517055
rs113517055
PMS2
2 7 6003689 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1248251121
rs1248251121
MLH1
1 3 37008892 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1302248679
rs1302248679
MLH1
2 3 37025913 stop gained G/A;T snv 0.700 0
dbSNP: rs1416171624
rs1416171624
MLH1
2 3 37047578 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs143277125
rs143277125
PMS2
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1458321358
rs1458321358
PMS2
2 1.000 0.160 7 5997420 stop gained G/A snv 9.2E-06 0.700 0
dbSNP: rs1482654951
rs1482654951
MLH1
1 3 37020335 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1553331290
rs1553331290
MSH6 ; FBXO11
3 1.000 0.160 2 47803466 frameshift variant AT/- delins 0.700 0
dbSNP: rs1553331337
rs1553331337
MSH6 ; FBXO11
1 2 47803485 frameshift variant C/- del 0.700 0