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: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.100 1.000 11 1995 2020
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2001 2011
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2004 2005
dbSNP: rs370229832
rs370229832
F2
2 0.925 0.080 11 46739293 missense variant T/C snv 3.2E-05 6.3E-05 0.010 1.000 1 2007 2007
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2008 2008
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.900 0.917 24 2009 2018
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.900 0.913 23 2009 2019
dbSNP: rs2395309
rs2395309 		2 0.925 0.200 6 33058469 regulatory region variant A/G;T snv 0.28 0.710 1.000 4 2009 2013
dbSNP: rs3128917
rs3128917
HLA-DPA2
2 0.925 0.200 6 33092219 non coding transcript exon variant T/G snv 0.33 0.720 1.000 4 2009 2019
dbSNP: rs2301220
rs2301220
HLA-DPA1
1 1.000 0.080 6 33070989 intron variant C/A;T snv 0.700 1.000 3 2009 2013
dbSNP: rs3135021
rs3135021
HLA-DPA1 ; HLA-DPB1
2 0.925 0.080 6 33077781 intron variant G/A snv 0.32 0.710 0.667 3 2009 2016
dbSNP: rs9380343
rs9380343
HLA-DPB2
1 1.000 0.080 6 33111389 upstream gene variant C/T snv 4.8E-02 0.710 1.000 3 2009 2019
dbSNP: rs10484569
rs10484569 		1 1.000 0.080 6 33091175 downstream gene variant G/A snv 5.9E-02 0.700 1.000 2 2009 2011
dbSNP: rs1442820036
rs1442820036
IFNAR2
1 1.000 0.080 21 33246788 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs2281388
rs2281388
HLA-DPA2
4 0.851 0.400 6 33092341 non coding transcript exon variant G/A snv 2.6E-02 0.700 1.000 2 2009 2011
dbSNP: rs2834167
rs2834167
IL10RB
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.020 1.000 2 2009 2013
dbSNP: rs3117222
rs3117222
HLA-DPA2
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.700 1.000 2 2009 2011
dbSNP: rs747432300
rs747432300
GPT ; LOC101928953
2 0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs763554423
rs763554423
MX1
1 1.000 0.080 21 41441838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009