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: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.050 1.000 5 2011 2016
dbSNP: rs623011
rs623011
5 0.827 0.320 17 70263305 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs945270
rs945270
3 0.925 0.040 14 55733755 intergenic variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs757196717
rs757196717
2 0.925 0.040 8 26770273 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs767958027
rs767958027
2 0.925 0.040 2 96114892 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 1999 1999
dbSNP: rs145047094
rs145047094
AIP
3 0.882 0.160 11 67483205 missense variant G/A snv 2.0E-03 1.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs4930199
rs4930199
AIP
4 0.851 0.120 11 67490920 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs641081
rs641081
4 0.851 0.120 11 67490352 missense variant C/A snv 0.96 0.84 0.010 1.000 1 2015 2015
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs587777741
rs587777741
2 0.925 7 36411062 missense variant C/T snv 1.7E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1998 2002
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.040 1.000 4 1998 2002
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.060 1.000 6 1994 2012
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.010 1.000 1 1995 1995
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.010 1.000 1 2007 2007
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2001 2017
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.020 1.000 2 2001 2017
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.020 1.000 2 1993 2005
dbSNP: rs200074159
rs200074159
APP
2 0.925 0.080 21 26000036 missense variant T/C snv 2.8E-05 5.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs763852444
rs763852444
APP
3 0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs950592627
rs950592627
APP
5 0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1999 1999