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: rs5786996
rs5786996
IDE
1 1.000 0.080 10 92452778 3 prime UTR variant -/G delins 3.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1925608
rs1925608
CTNNA3 ; LRRTM3 ; LOC101928961
1 1.000 0.080 10 66990654 intron variant A/C snv 0.49 0.020 0.500 2 2012 2014
dbSNP: rs4417206
rs4417206
ALDH18A1
1 1.000 0.080 10 95636713 intron variant A/C snv 0.28 0.010 1.000 1 2006 2006
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs4147929
rs4147929
ABCA7
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2019
dbSNP: rs2986017
rs2986017
CALHM1
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.050 0.800 5 2009 2010
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.030 1.000 3 2010 2014
dbSNP: rs5984894
rs5984894
PCDH11X
2 0.925 0.080 X 92138738 intron variant A/G snv 0.54 0.030 1.000 3 2009 2010
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.020 1.000 2 2013 2017
dbSNP: rs6859
rs6859
NECTIN2
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.020 1.000 2 2011 2017
dbSNP: rs10197851
rs10197851
HPCAL1
1 1.000 0.080 2 10345283 intron variant A/G snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs10410711
rs10410711
ZNF566
1 1.000 0.080 19 36449796 synonymous variant A/G snv 3.3E-02 3.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1060743
rs1060743
BIN1
2 0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29 0.010 1.000 1 2014 2014
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs115865530
rs115865530
PSEN1
2 0.925 0.080 14 73206449 missense variant A/G snv 1.4E-04 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs116754410
rs116754410
CD2AP
1 1.000 0.080 6 47624205 missense variant A/G snv 2.1E-03 8.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs116806486
rs116806486
CR1
1 1.000 0.080 1 207523640 missense variant A/G snv 1.6E-03 5.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs12570088
rs12570088 		4 0.851 0.160 10 58178575 intergenic variant A/G snv 4.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1369330655
rs1369330655
CTSD
2 0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1385600
rs1385600
GAB2 ; USP35
2 0.925 0.080 11 78225120 synonymous variant A/G snv 0.25 0.27 0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs2160525
rs2160525
LRP6 ; BCL2L14
1 1.000 0.080 12 12117356 3 prime UTR variant A/G snv 0.82 0.010 1.000 1 2017 2017