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: 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: 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
dbSNP: rs9277341
rs9277341
HLA-DPA1
3 0.882 0.280 6 33071848 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1049606
rs1049606
CCND2 ; CCND2-AS1
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs11355458
rs11355458
HSPA5 ; LOC107987127
1 1.000 0.080 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2010 2010
dbSNP: rs1140763
rs1140763
HSPA5
1 1.000 0.080 9 125235313 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs12009
rs12009
HSPA5
1 1.000 0.080 9 125235024 3 prime UTR variant G/A;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs17840761
rs17840761
HSPA5 ; LOC107987127
2 0.925 0.160 9 125241700 non coding transcript exon variant G/A snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs2267716
rs2267716
CRHR2
4 0.851 0.120 7 30677027 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs11752643
rs11752643 		2 0.925 0.120 6 32701596 downstream gene variant C/T snv 2.3E-02 0.700 1.000 1 2011 2011