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: rs1160100323
rs1160100323
LCAT
1 1.000 0.080 16 67939938 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1264352930
rs1264352930
APOA1 ; APOA1-AS
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 < 0.001 1 2011 2011
dbSNP: rs1475982887
rs1475982887
APOB
1 1.000 0.080 2 21032489 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2294213
rs2294213
PLTP
2 0.925 0.080 20 45912053 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2002 2002