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: rs25655
rs25655
CAPN2
2 0.925 0.080 1 223712706 missense variant C/G snv 1.00 0.99 0.010 1.000 1 2019 2019
dbSNP: rs156113
rs156113 		2 0.925 0.080 6 104369868 intergenic variant A/T snv 0.96 0.010 1.000 1 2012 2012
dbSNP: rs9656816
rs9656816 		1 1.000 0.080 8 127522409 intergenic variant G/A snv 0.94 0.700 1.000 2 2008 2008
dbSNP: rs2665582
rs2665582
SULT2B1
2 0.925 0.080 19 48584410 intron variant T/C snv 0.94 0.010 1.000 1 2014 2014
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2010 2010
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs406193
rs406193 		5 0.882 0.120 20 32811837 downstream gene variant T/C snv 0.91 0.010 1.000 1 2012 2012
dbSNP: rs7837688
rs7837688 		2 0.925 0.080 8 127527115 intergenic variant T/G snv 0.91 0.710 1.000 7 2007 2013
dbSNP: rs9915936
rs9915936
AXIN2
5 0.827 0.120 17 65537671 synonymous variant T/C snv 0.90 0.90 0.010 < 0.001 1 2011 2011
dbSNP: rs1534891
rs1534891
CSNK1E ; TPTEP2-CSNK1E
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.010 1.000 1 2009 2009
dbSNP: rs851023
rs851023
MAPK14
2 0.925 0.080 6 36038443 intron variant G/A snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs4242384
rs4242384 		3 0.882 0.160 8 127506309 regulatory region variant C/A snv 0.88 0.700 1.000 6 2008 2013
dbSNP: rs8041922
rs8041922
ALDH1A2
2 0.925 0.080 15 57983978 intron variant C/A;G snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs9325782
rs9325782 		6 0.851 0.120 8 16232964 intron variant C/T snv 0.87 0.010 1.000 1 2007 2007
dbSNP: rs554518
rs554518
LOC105376622
3 0.882 0.080 11 34434641 upstream gene variant T/C snv 0.87 0.010 1.000 1 2012 2012
dbSNP: rs822391
rs822391
ADIPOQ
4 0.925 0.080 3 186846014 intron variant C/T snv 0.85 0.010 < 0.001 1 2011 2011
dbSNP: rs11649743
rs11649743
HNF1B ; LOC105371754
2 0.925 0.080 17 37714971 intron variant A/G snv 0.85 0.030 1.000 3 2011 2018
dbSNP: rs895521
rs895521
NPAS2
2 0.925 0.080 2 100935633 intron variant T/C snv 0.84 0.010 1.000 1 2009 2009
dbSNP: rs35605
rs35605
ABCC1
2 0.925 0.080 16 16068162 synonymous variant T/C snv 0.79 0.84 0.010 1.000 1 2018 2018
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.030 1.000 3 2007 2016
dbSNP: rs7602358
rs7602358
KLHL30
6 0.827 0.080 2 238147187 intron variant G/T snv 0.83 0.010 1.000 1 2009 2009
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs10987883
rs10987883
SLC25A25-AS1
2 0.925 0.080 9 128118550 non coding transcript exon variant G/A snv 0.82 0.010 1.000 1 2011 2011
dbSNP: rs266849
rs266849
LOC105372441
4 0.925 0.080 19 50845834 intron variant G/A snv 0.82 0.710 1.000 2 2008 2012