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: rs1323833193
rs1323833193
EGF
4 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.857 21 2003 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
dbSNP: rs762403278
rs762403278
4 0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 34 1999 2019
dbSNP: rs373667881
rs373667881
5 0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1457092
rs1457092
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.010 1.000 1 2010 2010
dbSNP: rs2305764
rs2305764
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.010 1.000 1 2010 2010
dbSNP: rs28936670
rs28936670
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs104893904
rs104893904
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs769233111
rs769233111
3 0.882 0.160 5 173235071 missense variant G/A snv 6.7E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs12325817
rs12325817
7 0.807 0.320 17 17583205 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1331959399
rs1331959399
2 0.925 0.120 7 19117256 synonymous variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs121912594
rs121912594
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.080 1.000 8 2005 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.833 12 2003 2014
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs363504
rs363504
3 0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs363430
rs363430
3 0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17 0.010 1.000 1 2009 2009