Source: BEFREE ×
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: 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: rs1701704
rs1701704
IKZF4 ; LOC105369781
1 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.830 1.000 3 2008 2013
dbSNP: rs1445898
rs1445898
CAPSL
1 1.000 0.120 5 35910427 missense variant C/T snv 0.51 0.42 0.020 1.000 2 2008 2014
dbSNP: rs3135002
rs3135002 		1 1.000 0.120 6 32700662 TF binding site variant A/C snv 0.80 0.720 0.500 2 2018 2020
dbSNP: rs370443546
rs370443546
CTLA4
1 1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05 0.020 1.000 2 2006 2007
dbSNP: rs559047
rs559047 		1 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020
dbSNP: rs5742913
rs5742913
TCF7
1 1.000 0.120 5 134115992 missense variant C/A;G;T snv 8.4E-02; 2.0E-05; 1.2E-05 0.020 1.000 2 2009 2009
dbSNP: rs757518063
rs757518063
SUMO1
1 1.000 0.120 2 202210797 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.020 1.000 2 2011 2012
dbSNP: rs9260151
rs9260151
HLA-A
1 1.000 0.120 6 29943253 non coding transcript exon variant C/T snv 0.16 0.14 0.720 0.500 2 2018 2020
dbSNP: rs941576
rs941576
MEG3
1 1.000 0.120 14 100839708 intron variant A/G snv 0.45 0.820 1.000 2 2010 2015
dbSNP: rs10011025
rs10011025
GLRA3
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10186193
rs10186193
RNASEH1
1 1.000 0.120 2 3550384 synonymous variant T/C snv 0.33 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1023934247
rs1023934247
PRF1
1 1.000 0.120 10 70598292 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs10509540
rs10509540
RNLS ; LOC101929727
1 0.925 0.160 10 88263276 upstream gene variant T/C snv 0.25 0.810 1.000 1 2009 2012
dbSNP: rs1055271
rs1055271
MIOX
1 1.000 0.120 22 50489911 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs11074932
rs11074932
CIITA ; LOC105371080
1 1.000 0.120 16 10874479 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11170466
rs11170466
ITGB7 ; ZNF740
1 1.000 0.120 12 53192075 3 prime UTR variant C/T snv 5.8E-02 0.010 1.000 1 2014 2014
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: rs11543947
rs11543947
PSMB5
1 1.000 0.120 14 23034812 missense variant G/A snv 6.6E-02 5.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1217385
rs1217385
AP4B1-AS1
1 1.000 0.120 1 113875583 intron variant A/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1217412
rs1217412
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113814589 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1217419
rs1217419
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113859282 intron variant T/G snv 0.56 0.010 1.000 1 2014 2014
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: rs1265564
rs1265564
CUX2
1 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs1284566036
rs1284566036
GGT1
1 1.000 0.120 22 24615074 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002