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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2007 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2007 2015
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs12004589
rs12004589
RXRA
2 1.000 9 134398879 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs587778937
rs587778937
MLH1
4 0.882 0.160 3 37040291 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs63750575
rs63750575
MLH1
5 0.851 0.160 3 37047550 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs63751202
rs63751202
MLH1
5 0.851 0.160 3 37048578 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs869312801
rs869312801
PMS2
4 0.882 0.160 7 5987062 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013