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: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.790 1.000 12 2009 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.080 1.000 8 1996 2018
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.830 1.000 7 2007 2019
dbSNP: rs3118470
rs3118470
IL2RA
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.070 1.000 7 2007 2017
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.830 1.000 6 2007 2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
dbSNP: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.750 1.000 6 2007 2015
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.050 1.000 5 2008 2015
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.800 1.000 5 2007 2011
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.810 1.000 5 2007 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.040 1.000 4 1996 2008
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.830 1.000 4 2008 2013
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.810 1.000 4 2007 2010
dbSNP: rs2903692
rs2903692
CLEC16A
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.840 1.000 4 2007 2010
dbSNP: rs478582
rs478582
PTPN2
1 1.000 0.120 18 12835977 intron variant T/C snv 0.35 0.040 1.000 4 2011 2019
dbSNP: rs725613
rs725613
CLEC16A
4 0.851 0.240 16 11075826 intron variant T/G snv 0.42 0.740 1.000 4 2007 2013
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.810 1.000 3 2007 2017
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.810 1.000 3 2009 2012
dbSNP: rs11755527
rs11755527
BACH2
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.800 1.000 3 2008 2011
dbSNP: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.030 1.000 3 1998 2003
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2003 2004
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 1.000 3 2008 2008
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 1.000 3 2008 2008
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 1.000 3 2013 2017
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019