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: rs10275712
rs10275712
C7orf50 ; GPR146
1 7 1043282 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs2853579
rs2853579
ABCA1
3 9 104828991 synonymous variant G/T snv 0.20 0.23 0.700 1.000 1 2018 2018
dbSNP: rs7873387
rs7873387
ABCA1
1 9 104833321 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12686004
rs12686004
ABCA1
6 1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs2575876
rs2575876
ABCA1
7 9 104903458 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1800978
rs1800978
ABCA1
6 1.000 0.040 9 104903697 5 prime UTR variant C/A;G;T snv 5.4E-06; 0.14 0.700 1.000 1 2018 2018
dbSNP: rs648324
rs648324
PEX14
2 1 10496390 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs62128801
rs62128801
KRI1
2 19 10558487 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10271556
rs10271556
NAMPT
4 7 106258428 intron variant C/T snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs7821092
rs7821092
RP1L1
1 8 10651291 intron variant G/C snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs11193085
rs11193085
SORCS1
3 10 106873848 intron variant G/A snv 8.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs13465
rs13465
ILF3
3 19 10692116 3 prime UTR variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1730859
rs1730859 		2 1 107075085 intergenic variant G/A snv 0.75 0.700 1.000 2 2018 2018
dbSNP: rs11813704
rs11813704
SORCS1
2 10 107102114 intron variant G/T snv 3.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs11671653
rs11671653
DNM2
2 1.000 0.040 19 10727810 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2712199
rs2712199
COG5
1 7 107499794 intron variant A/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1610095
rs1610095
DNM2
2 19 10794013 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3218688
rs3218688
ATM
4 11 108268595 missense variant C/T snv 3.2E-05 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs826681
rs826681
LIMS1
2 2 108615619 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs826682
rs826682
LIMS1
1 2 108615932 intron variant A/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs3741782
rs3741782
CORO1C
2 1.000 0.040 12 108701361 intron variant A/G;T snv 0.31; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs7968419
rs7968419
CORO1C ; LOC105369969
2 12 108743950 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1529711
rs1529711
CARM1
4 1.000 0.080 19 10912758 intron variant C/T snv 0.13 0.700 1.000 1 2016 2016