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: rs1323151304
rs1323151304
POLE
2 0.925 0.080 12 132643933 frameshift variant TA/- delins 0.010 1.000 1 2019 2019
dbSNP: rs267606659
rs267606659
APCDD1
2 0.925 0.040 18 10455007 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs57865060
rs57865060
CYP1B1 ; CYP1B1-AS1
6 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2007 2007
dbSNP: rs747416693
rs747416693
HNF1A
1 1.000 0.040 12 120993675 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007