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: rs11466537
rs11466537
TGFBR2
1 1.000 3 30693684 3 prime UTR variant T/A snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs371402182
rs371402182
PMS2
3 1.000 7 5999167 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4986984
rs4986984
MLH1
5 0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04 0.010 1.000 1 2016 2016