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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.800 1.000 2 2009 2010
dbSNP: rs72678531
rs72678531
IL12RB2
1 1.000 0.080 1 67332762 intron variant T/C snv 0.17 0.800 1.000 2 2012 2012
dbSNP: rs10889681
rs10889681
IL12RB2
2 0.925 0.160 1 67333487 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11209050
rs11209050
IL12RB2
1 1.000 0.080 1 67326053 intron variant A/C snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs11209051
rs11209051
IL12RB2
1 1.000 0.080 1 67333212 intron variant C/T snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs12134279
rs12134279 		4 0.925 0.080 1 197812068 regulatory region variant C/T snv 0.17 0.800 1.000 1 2011 2011
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1539414
rs1539414
DENND1B
1 1.000 0.080 1 197774376 intron variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs1572037
rs1572037
PRDM16
1 1.000 0.080 1 3337805 intron variant T/A;C snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs16841904
rs16841904
DENND1B
6 0.807 0.160 1 197732862 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs17129789
rs17129789
IL12RB2
2 0.925 0.080 1 67324915 intron variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs17641524
rs17641524
DENND1B
2 0.925 0.120 1 197735587 splice region variant C/G;T snv 4.0E-06; 0.17 0.700 1.000 1 2015 2015
dbSNP: rs1999527
rs1999527
PRDM16
1 1.000 0.080 1 3339544 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2300747
rs2300747
CD58 ; MIR548AC
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs2488393
rs2488393
DENND1B
1 1.000 0.080 1 197753110 intron variant C/T snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs2843403
rs2843403
MMEL1
3 0.882 0.200 1 2597658 intron variant T/C snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs4620530
rs4620530
CHRM3 ; CHRM3-AS1
2 0.925 0.080 1 239900521 intron variant T/G snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs4648379
rs4648379
PRDM16
1 1.000 0.080 1 3344952 intron variant C/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs4648477
rs4648477
PRDM16
1 1.000 0.080 1 3335411 intron variant G/A snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs4648478
rs4648478
PRDM16
1 1.000 0.080 1 3335443 intron variant C/T snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs56194793
rs56194793
IL12RB2
1 1.000 0.080 1 67324915 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs6679356
rs6679356
IL12RB2
2 0.925 0.200 1 67354511 intron variant C/T snv 0.75 0.700 1.000 1 2015 2015