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: rs119484087
rs119484087
ELAC2
2 0.925 0.040 17 12995006 missense variant T/A;C snv 1.3E-03; 4.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs4792311
rs4792311
ELAC2
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.010 1.000 1 2001 2001
dbSNP: rs4810671
rs4810671
SULF2
2 0.925 0.120 20 47726848 intron variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs5030739
rs5030739
ELAC2
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs536562413
rs536562413
MSH6 ; FBXO11
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs748120
rs748120
NR2C2
2 0.925 0.120 3 14993932 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011