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: rs2858060
rs2858060
MIR221 ; MIR222
2 0.925 0.160 X 45747602 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2010 2012
dbSNP: rs2228314
rs2228314
SREBF2
8 0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2266966
rs2266966
MAPK1
1 1.000 0.120 22 21767265 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
6 0.925 0.160 22 24594246 intron variant A/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs5999521
rs5999521
MAPK1
1 1.000 0.120 22 21792110 intron variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs914839065
rs914839065
ADA2
1 1.000 0.120 22 17209656 missense variant C/T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1489441940
rs1489441940
PTPN1
2 0.925 0.200 20 50510548 missense variant C/G;T snv 6.4E-06; 4.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs3746619
rs3746619
MC3R
3 0.925 0.200 20 56248749 5 prime UTR variant C/A snv 0.14 0.21 0.010 < 0.001 1 2019 2019
dbSNP: rs3827103
rs3827103
MC3R
2 0.925 0.200 20 56248973 missense variant G/A snv 0.14 0.19 0.010 < 0.001 1 2019 2019
dbSNP: rs6022786
rs6022786 		1 1.000 0.120 20 53830764 upstream gene variant A/G snv 0.55 0.800 1.000 1 2012 2012
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs853854
rs853854
MAPRE1
1 1.000 0.120 20 32832951 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1181860747
rs1181860747
INSR
10 0.776 0.240 19 7122961 missense variant C/T snv 0.060 1.000 6 2001 2016
dbSNP: rs2059807
rs2059807
INSR
7 0.851 0.200 19 7166098 intron variant A/G;T snv 0.830 0.500 4 2011 2020
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.030 0.333 3 2008 2019
dbSNP: rs1799817
rs1799817
INSR
4 0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21 0.030 0.333 3 2011 2020
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 0.500 2 2011 2016
dbSNP: rs2252673
rs2252673
INSR
3 0.882 0.120 19 7150407 intron variant C/G snv 0.75 0.020 1.000 2 2011 2014
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2011 2016
dbSNP: rs1003887
rs1003887
INSL3
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1044386
rs1044386
FEM1A
1 1.000 0.120 19 4795277 3 prime UTR variant G/A snv 0.20 0.010 1.000 1 2008 2008