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: rs1553413710
rs1553413710
MSH6 ; FBXO11
3 0.882 0.200 2 47800325 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1553368590
rs1553368590
MSH2
3 0.882 0.200 2 47475097 missense variant T/A snv 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2000
dbSNP: rs1198119472
rs1198119472
GSTA1
2 0.925 0.120 6 52799190 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2001 2001
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 2006 2006
dbSNP: rs1021631442
rs1021631442
MSH6 ; FBXO11
3 0.882 0.200 2 47806279 missense variant G/A snv 0.700 1.000 1 2012 2012