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: rs1169305
rs1169305
HNF1A
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256
ZFHX3
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
dbSNP: rs7533564
rs7533564
PTGFR ; MGC27382
4 0.925 0.120 1 78360228 intron variant C/T snv 0.92 0.010 < 0.001 1 2016 2016
dbSNP: rs1974990
rs1974990 		3 1.000 0.040 2 169790406 non coding transcript exon variant G/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs5756152
rs5756152
MYH9
2 1.000 0.040 22 36316427 intron variant A/G snv 0.90 0.010 1.000 1 2012 2012
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2020 2020
dbSNP: rs2671222
rs2671222
CXCR1
2 1.000 0.040 2 218167879 upstream gene variant T/C snv 0.89 0.010 1.000 1 2011 2011
dbSNP: rs2199936
rs2199936
ABCG2
5 0.882 0.160 4 88124179 intron variant A/G;T snv 0.88 0.010 1.000 1 2016 2016
dbSNP: rs2241745
rs2241745
IRS2
4 0.882 0.120 13 109770184 intron variant C/T snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs5128
rs5128
APOC3
8 0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87 0.010 1.000 1 2009 2009
dbSNP: rs2811712
rs2811712
CDKN2B-AS1
5 0.882 0.080 9 21998036 intron variant G/A snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs6548238
rs6548238 		10 0.882 0.200 2 634905 TF binding site variant T/C snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs7973260
rs7973260
KSR2
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs822396
rs822396
ADIPOQ
16 0.732 0.400 3 186849088 intron variant G/A snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.010 1.000 1 2012 2012
dbSNP: rs261332
rs261332
LIPC ; ALDH1A2 ; LIPC-AS1
20 0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2009 2009
dbSNP: rs1864169
rs1864169
GTF2A1 ; SNORA79
5 0.851 0.200 14 81203689 intron variant G/T snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs4821480
rs4821480
MYH9
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.020 0.500 2 2011 2012
dbSNP: rs2016520
rs2016520
PPARD
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016