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: rs1060502890
rs1060502890
MSH6 ; FBXO11
1 2 47800972 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502891
rs1060502891
MSH6 ; FBXO11
1 2 47803500 frameshift variant A/- del 0.700 0
dbSNP: rs1060502903
rs1060502903
MSH6 ; FBXO11
1 2 47806476 frameshift variant -/AAGA delins 0.700 0
dbSNP: rs1060502918
rs1060502918
MSH6 ; FBXO11
2 2 47799991 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502932
rs1060502932
MSH6 ; FBXO11
1 2 47798981 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502937
rs1060502937
MSH6 ; FBXO11
1 2 47806623 stop gained A/T snv 0.700 0
dbSNP: rs1060502940
rs1060502940
MSH6 ; FBXO11
1 2 47799316 frameshift variant AG/- del 0.700 0
dbSNP: rs1060502941
rs1060502941
MSH6 ; FBXO11
1 2 47798877 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502946
rs1060502946
MSH6 ; FBXO11
1 2 47799278 frameshift variant -/AA ins 0.700 0
dbSNP: rs1060503138
rs1060503138
PMS2
1 7 5986874 stop gained G/A snv 0.700 0
dbSNP: rs1060503142
rs1060503142
PMS2
1 7 5987417 stop gained T/A snv 0.700 0
dbSNP: rs1060503148
rs1060503148
PMS2
1 7 6005926 frameshift variant T/- del 0.700 0
dbSNP: rs1064792951
rs1064792951
MSH2
1 2 47482781 frameshift variant TGAAAAAATTATTCAGG/- delins 0.700 0
dbSNP: rs1064793561
rs1064793561
MSH2
2 2 47466710 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1064794055
rs1064794055
MSH6 ; FBXO11
1 2 47800009 frameshift variant AA/- delins 0.700 0
dbSNP: rs1064794083
rs1064794083
PMS2
1 7 6003974 stop gained A/C snv 7.0E-06 0.700 0
dbSNP: rs1064794155
rs1064794155
MSH2
2 2 47412560 splice donor variant G/- delins 0.700 0
dbSNP: rs1064794173
rs1064794173
PMS2
1 7 6005913 frameshift variant C/- delins 0.700 0
dbSNP: rs1064794331
rs1064794331
MLH1
1 3 37048557 frameshift variant -/TGTGCCCC delins 0.700 0
dbSNP: rs1064794384
rs1064794384
MSH6 ; FBXO11
2 2 47806271 frameshift variant TA/- delins 0.700 0
dbSNP: rs1064794577
rs1064794577
PMS2
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs1064795341
rs1064795341
MLH1 ; EPM2AIP1
1 3 36993553 frameshift variant CGTGGCAGGGGTT/- delins 0.700 0
dbSNP: rs1064795441
rs1064795441
MLH1
2 1.000 0.080 3 37001028 frameshift variant T/- delins 0.700 0
dbSNP: rs1064795447
rs1064795447
PMS2
1 7 5999122 frameshift variant CA/- delins 0.700 0
dbSNP: rs1064795591
rs1064795591
MSH6 ; FBXO11
2 2 47799916 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0