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: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 2 2018 2018
dbSNP: rs17660708
rs17660708
SCAF4
2 21 31687518 intron variant T/C snv 3.5E-02 0.700 1.000 2 2018 2018
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs1883711
rs1883711 		3 20 40551182 regulatory region variant G/C snv 2.5E-02 0.700 1.000 2 2015 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: rs2073547
rs2073547
NPC1L1
2 7 44542732 upstream gene variant A/G snv 0.24 0.700 1.000 2 2018 2019
dbSNP: rs217381
rs217381
DDX56
2 7 44566618 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs217386
rs217386 		1 7 44561096 downstream gene variant G/A snv 0.41 0.700 1.000 2 2018 2019
dbSNP: rs2278426
rs2278426
ANGPTL8 ; DOCK6
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.700 1.000 2 2018 2019
dbSNP: rs2294261
rs2294261 		1 6 16108932 downstream gene variant A/C snv 0.65 0.700 1.000 2 2017 2019
dbSNP: rs2297374
rs2297374
SLC22A1
3 1.000 0.080 6 160154953 intron variant C/T snv 0.37 0.42 0.700 1.000 2 2018 2019
dbSNP: rs247616
rs247616 		8 1.000 0.040 16 56955678 intergenic variant C/T snv 0.29 0.700 1.000 2 2017 2018
dbSNP: rs247617
rs247617 		20 0.827 0.160 16 56956804 regulatory region variant C/A snv 0.29 0.700 1.000 2 2015 2018
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 2 2018 2018
dbSNP: rs2587534
rs2587534 		1 1 234713592 intron variant G/A snv 0.65 0.700 1.000 2 2017 2019
dbSNP: rs2618568
rs2618568 		2 20 17863324 intergenic variant C/A snv 0.53 0.700 1.000 2 2015 2018
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
3 1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80 0.700 1.000 2 2017 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: rs283813
rs283813
NECTIN2
6 1.000 0.080 19 44885917 intron variant T/A snv 0.11 0.16 0.700 1.000 2 2012 2012
dbSNP: rs2854322
rs2854322
NF1
4 17 31372398 intron variant T/C snv 0.47 0.700 1.000 2 2018 2018
dbSNP: rs2954022
rs2954022 		4 8 125470379 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs2954031
rs2954031 		9 8 125479491 intron variant G/T snv 0.42 0.700 1.000 2 2018 2019
dbSNP: rs34361
rs34361
POC5 ; ANKDD1B
2 5 75676021 intron variant A/G snv 0.58 0.700 1.000 2 2018 2019
dbSNP: rs360801
rs360801
EHBP1
1 2 62728252 intron variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs3850634
rs3850634
DOCK7
4 1 62584927 intron variant T/G snv 0.33 0.34 0.700 1.000 2 2018 2019