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: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.040 1.000 4 2012 2015
dbSNP: rs1114167843
rs1114167843
MSH2
3 0.882 0.120 2 47478396 missense variant A/C;G snv 0.010 1.000 1 2006 2006
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: rs35831931
rs35831931
MLH1
4 0.882 0.120 3 37050528 missense variant G/A;T snv 1.2E-03; 2.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2011 2011
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: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2004 2004
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: rs627928
rs627928
RNASEL
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.010 1.000 1 2002 2002
dbSNP: rs63750109
rs63750109
MLH1
3 0.882 0.120 3 37048559 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs74315364
rs74315364
RNASEL
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.010 1.000 1 2004 2004