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: rs1021631442
rs1021631442
MSH6 ; FBXO11
3 0.882 0.200 2 47806279 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2006 2016
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs1057517541
rs1057517541
MLH1
3 0.925 0.160 3 37025817 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517764
rs1057517764
MSH6 ; FBXO11
3 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1057520735
rs1057520735
MSH2
1 1.000 0.160 2 47476388 stop gained C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1060500702
rs1060500702
MLH1
1 1.000 0.160 3 37007050 missense variant G/A;C snv 0.700 0
dbSNP: rs1060501991
rs1060501991
MSH2
2 1.000 0.160 2 47480695 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.090 0.889 9 2007 2019
dbSNP: rs1060504000
rs1060504000
MLH1
2 0.925 0.160 3 37025666 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1064793489
rs1064793489
MSH6 ; FBXO11
2 1.000 0.160 2 47805027 splice donor variant G/- delins 0.700 0
dbSNP: rs1064793600
rs1064793600
MSH6 ; FBXO11
1 1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 0.700 0
dbSNP: rs1064794566
rs1064794566
PMS2
2 1.000 0.160 7 5986795 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1064796500
rs1064796500
PMS2
1 1.000 0.160 7 5973455 frameshift variant G/- delins 0.700 0
dbSNP: rs1085308057
rs1085308057
MSH2
3 0.925 0.160 2 47475244 missense variant A/G snv 0.700 0
dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1114167720
rs1114167720
MSH6 ; FBXO11
2 1.000 0.160 2 47806490 frameshift variant -/GAGACTA delins 0.700 0
dbSNP: rs1114167729
rs1114167729
MSH6 ; FBXO11
2 1.000 0.160 2 47806652 splice donor variant G/C snv 0.700 0
dbSNP: rs1114167801
rs1114167801
MSH6 ; FBXO11
2 1.000 0.160 2 47799109 frameshift variant AAAGA/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1114167806
rs1114167806
MSH2
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 1.000 3 1999 2004
dbSNP: rs1114167811
rs1114167811
MSH2
2 1.000 0.160 2 47475166 stop gained T/G snv 0.700 0
dbSNP: rs1114167815
rs1114167815
MSH2
2 1.000 0.160 2 47475100 frameshift variant -/A delins 0.700 1.000 1 2008 2008
dbSNP: rs1114167817
rs1114167817
MSH2
2 1.000 0.160 2 47466802 frameshift variant C/- delins 0.700 0