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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2015
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs17501010
rs17501010
CLDN1 ; LOC107986170
5 0.827 0.320 3 190308865 intron variant G/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs893051
rs893051
CLDN1
7 0.807 0.400 3 190321812 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 1.000 2 2009 2018
dbSNP: rs117834366
rs117834366
CNTNAP2
2 0.925 0.120 7 147937799 intron variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2019 2019