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: rs1136545
rs1136545
RNASEH1 ; RNASEH1-AS1
1 1.000 0.120 2 3558251 missense variant G/A;C snv 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs1150752
rs1150752
TNXB
3 0.882 0.240 6 32096949 missense variant T/C;G snv 5.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs1150754
rs1150754
TNXB
4 0.851 0.200 6 32082981 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs11571316
rs11571316
CTLA4
2 0.925 0.160 2 203866366 upstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11725853
rs11725853
GLRA3
1 1.000 0.120 4 174721548 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11954020
rs11954020 		1 1.000 0.120 5 35883149 downstream gene variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1205538057
rs1205538057
ACE
5 0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121908261
rs121908261
INS ; INS-IGF2
5 0.851 0.120 11 2160809 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1223438908
rs1223438908
CBLB
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1232620504
rs1232620504
HLA-B
1 1.000 0.120 6 31354503 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1233478
rs1233478
LINC02829
3 0.925 0.120 6 29510044 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12453507
rs12453507 		2 0.925 0.200 17 39896954 intergenic variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs12566340
rs12566340
BCL2L15 ; AP4B1-AS1
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1265761
rs1265761
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32353820 intron variant A/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1303328174
rs1303328174
GCG ; LOC101929532
1 1.000 0.120 2 162144042 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs13306190
rs13306190
APOB
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1383265
rs1383265 		2 0.925 0.200 6 32772111 intergenic variant T/A;C snv 0.700 1.000 1 2007 2007
dbSNP: rs139280106
rs139280106
RELB
4 0.851 0.280 19 45032712 missense variant C/G;T snv 5.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs1437184398
rs1437184398
GPT2
4 0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 0.010 1.000 1 2018 2018