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: rs2169387
rs2169387
LOC157273
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2018 2019
dbSNP: rs2277862
rs2277862
FER1L4
1 20 35564866 non coding transcript exon variant C/T snv 0.18 0.17 0.800 1.000 3 2010 2018
dbSNP: rs2495477
rs2495477
PCSK9
3 1 55052794 splice region variant A/G snv 0.42 0.49 0.800 1.000 3 2012 2019
dbSNP: rs2618568
rs2618568 		2 20 17863324 intergenic variant C/A snv 0.53 0.700 1.000 3 2015 2018
dbSNP: rs2642442
rs2642442
MTARC1
3 1 220800221 intron variant C/T snv 0.73 0.800 1.000 3 2010 2018
dbSNP: rs28927680
rs28927680
BUD13
4 11 116748357 3 prime UTR variant C/G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs2954031
rs2954031 		9 8 125479491 intron variant G/T snv 0.42 0.800 1.000 3 2012 2019
dbSNP: rs2980875
rs2980875 		6 8 125469505 intron variant A/C;G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs3902354
rs3902354 		3 1 109276674 downstream gene variant C/A;T snv 0.800 1.000 3 2014 2019
dbSNP: rs4297946
rs4297946
PLCG1 ; ZHX3
2 20 41182635 3 prime UTR variant G/C;T snv 0.700 1.000 3 2010 2019
dbSNP: rs4530754
rs4530754
CSNK1G3
3 5 123519722 intron variant G/A snv 0.61 0.800 1.000 3 2013 2018
dbSNP: rs4722551
rs4722551
LOC105375199
5 7 25952206 upstream gene variant T/C;G snv 0.800 1.000 3 2013 2018
dbSNP: rs514230
rs514230
LINC01132
3 1 234722850 upstream gene variant A/T snv 0.62 0.800 1.000 3 2010 2018
dbSNP: rs557933
rs557933 		2 1 234717521 intron variant A/C snv 0.65 0.700 1.000 3 2015 2018
dbSNP: rs56156922
rs56156922 		5 16 56953457 intergenic variant T/C snv 0.26 0.700 1.000 3 2018 2019
dbSNP: rs563290
rs563290 		4 2 21065354 intergenic variant G/A snv 0.69 0.800 1.000 3 2012 2019
dbSNP: rs581080
rs581080
TTC39B
3 9 15305380 intron variant G/C snv 0.72 0.800 1.000 3 2010 2017
dbSNP: rs6029526
rs6029526
TOP1
3 20 41043978 intron variant T/A snv 0.58 0.800 1.000 3 2010 2018
dbSNP: rs660240
rs660240
CELSR2
6 1 109275216 3 prime UTR variant T/C snv 0.75 0.800 1.000 3 2012 2019
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.800 1.000 3 2012 2019
dbSNP: rs7241918
rs7241918
LOC105372112
3 18 49634583 intergenic variant G/A;T snv 0.800 1.000 3 2010 2018
dbSNP: rs7515577
rs7515577
EVI5
2 1 92543881 intron variant C/A;G snv 0.800 1.000 3 2010 2018
dbSNP: rs76866386
rs76866386
ABCG8
2 2 43848344 non coding transcript exon variant T/C snv 7.3E-02 0.700 1.000 3 2015 2019
dbSNP: rs9376090
rs9376090
HBS1L
7 6 135090090 intron variant T/C snv 0.19 0.800 1.000 3 2013 2018
dbSNP: rs10260606
rs10260606 		3 7 44544952 upstream gene variant G/A;C snv 0.700 1.000 2 2015 2018