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: rs2029721
rs2029721
PPM1H
1 1.000 0.080 12 62755564 non coding transcript exon variant G/A snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs2073067
rs2073067
MTHFD1L
1 1.000 0.080 6 150876016 intron variant C/G snv 0.32 0.35 0.010 1.000 1 2012 2012
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
dbSNP: rs2234258
rs2234258
TREM2 ; TREML1 ; LOC105375056
1 1.000 0.080 6 41158691 stop gained C/T snv 3.1E-03 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs2269657
rs2269657
SREBF2
1 1.000 0.080 22 41868265 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2276412
rs2276412
SORL1
1 1.000 0.080 11 121590137 missense variant C/G;T snv 4.0E-06; 3.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs2279420
rs2279420 		1 1.000 0.080 10 60022189 downstream gene variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2297472
rs2297472
LIPA
1 1.000 0.080 10 89225233 splice region variant G/A;C;T snv 0.29; 8.0E-06; 4.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs2306402
rs2306402
CTNNA3
1 1.000 0.080 10 67175727 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2569987
rs2569987
UNG
1 1.000 0.080 12 109103366 intron variant T/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs371245265
rs371245265
AKAP9
1 1.000 0.080 7 91940884 5 prime UTR variant CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG delins 0.010 1.000 1 2018 2018
dbSNP: rs3737002
rs3737002
CR1
1 1.000 0.080 1 207587428 missense variant C/T snv 0.28 0.23 0.010 1.000 1 2014 2014
dbSNP: rs3817622
rs3817622
PSENEN ; U2AF1L4
1 1.000 0.080 19 35746326 intron variant T/A snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs3824966
rs3824966
SORL1
1 1.000 0.080 11 121577474 intron variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs3844508
rs3844508
ESR1
1 1.000 0.080 6 151818907 intron variant A/G snv 0.23 0.010 1.000 1 2012 2012
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: rs4646955
rs4646955
IDE
1 1.000 0.080 10 92534534 intron variant A/G snv 0.21 0.20 0.010 1.000 1 2007 2007
dbSNP: rs4669573
rs4669573
HPCAL1
1 1.000 0.080 2 10338810 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs5030882
rs5030882
TET1
1 1.000 0.080 10 68692714 3 prime UTR variant C/T snv 0.89 0.010 1.000 1 2008 2008
dbSNP: rs536360
rs536360
SORL1
1 1.000 0.080 11 121457328 intron variant C/A;T snv 0.52 0.010 1.000 1 2007 2007
dbSNP: rs556349
rs556349
SORL1
1 1.000 0.080 11 121555498 intron variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs572750141
rs572750141
SHARPIN
1 1.000 0.080 8 144099806 missense variant C/T snv 5.6E-05 1.4E-05 0.010 1.000 1 2019 2019
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: rs63750207
rs63750207
PSEN2
1 1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs661057
rs661057
SORL1
1 1.000 0.080 11 121458245 intron variant T/C snv 0.40 0.010 1.000 1 2009 2009