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: rs1038026
rs1038026
TOMM40
4 1.000 0.080 19 44901805 3 prime UTR variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs11207995
rs11207995
DOCK7
4 1 62583880 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs1169314
rs1169314
C12orf43
2 12 121005313 intron variant A/C;G snv 0.700 1.000 2 2015 2018
dbSNP: rs11870935
rs11870935
KPNB1
4 17 47655239 intron variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs143020224
rs143020224
SMARCA4
2 19 11076648 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1553318
rs1553318
HAVCR1
3 5 157052312 intron variant G/A;C snv 6.2E-03; 0.67 0.700 1.000 2 2015 2018
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.800 1.000 2 2012 2019
dbSNP: rs174601
rs174601
FADS2
12 0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 0.800 1.000 2 2012 2018
dbSNP: rs1748195
rs1748195
DOCK7
8 0.851 0.120 1 62583922 intron variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs17725246
rs17725246
NPC1L1
4 7 44542387 upstream gene variant T/A;C snv 0.800 1.000 2 2012 2018
dbSNP: rs2001846
rs2001846 		2 1.000 0.080 8 125466208 upstream gene variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 0.800 1.000 2 2012 2019
dbSNP: rs217381
rs217381
DDX56
2 7 44566618 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.800 1.000 2 2012 2016
dbSNP: rs2304128
rs2304128
GMIP
5 19 19635342 intron variant G/C;T snv 0.800 1.000 2 2012 2019
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 2 2018 2018
dbSNP: rs28362263
rs28362263
PCSK9
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 2 2018 2019
dbSNP: rs2902940
rs2902940
LOC105372618
3 20 40462847 regulatory region variant A/G;T snv 0.800 1.000 2 2010 2013
dbSNP: rs2954022
rs2954022 		4 8 125470379 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs2980875
rs2980875 		6 8 125469505 intron variant A/C;G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs360801
rs360801
EHBP1
1 2 62728252 intron variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs3902354
rs3902354 		3 1 109276674 downstream gene variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs41279633
rs41279633
NPC1L1
3 1.000 0.080 7 44541277 5 prime UTR variant G/A;T snv 0.12 0.700 1.000 2 2015 2018
dbSNP: rs499883
rs499883
PCSK9
3 1 55053501 intron variant G/A;C snv 0.700 1.000 2 2012 2012
dbSNP: rs586178
rs586178
RHCE
4 1 25420739 missense variant G/A;C snv 8.4E-05; 0.41 0.700 1.000 2 2015 2018