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: rs1476679
rs1476679
ZCWPW1
2 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.010 1.000 1 2016 2016
dbSNP: rs1050286
rs1050286
OLR1
3 0.882 0.160 12 10158964 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs17808009
rs17808009
OLR1
1 1.000 0.080 12 10159330 3 prime UTR variant C/T snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1050283
rs1050283
OLR1
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs139709573
rs139709573
TM2D3
1 1.000 0.080 15 101646763 missense variant G/A snv 2.9E-04 1.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2012 2012
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: 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: rs760832624
rs760832624
CALHM1
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.030 0.667 3 2009 2010
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: rs386747134
rs386747134
CALHM1
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.030 0.667 3 2009 2010
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.030 1.000 3 2015 2020
dbSNP: rs770510230
rs770510230
ABCA7
1 1.000 0.080 19 1058155 stop gained G/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2015 2015
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: rs17277986
rs17277986
SORCS1
2 0.925 0.080 10 106998968 intron variant C/T snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs950809
rs950809
SORCS1
1 1.000 0.080 10 107035617 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs80001089
rs80001089
UNG
1 1.000 0.080 12 109099757 intron variant T/G snv 5.8E-02 0.010 1.000 1 2019 2019
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: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2009 2009
dbSNP: rs760678
rs760678
NEDD9 ; LOC105374925
3 0.882 0.080 6 11334421 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1799999
rs1799999
PPP1R3A
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 1.000 1 2002 2002