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: rs537160
rs537160
CFB ; CYP21A2
4 0.882 0.240 6 31948623 intron variant A/G snv 0.73 0.010 1.000 1 2009 2009
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2855429
rs2855429
COL11A2
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs11038689
rs11038689
CRY2
3 0.882 0.160 11 45852713 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1401417
rs1401417
CRY2
3 0.882 0.160 11 45858559 intron variant C/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs7123390
rs7123390
CRY2
3 0.882 0.160 11 45869867 intron variant G/A snv 0.22 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.020 1.000 2 2009 2018
dbSNP: rs1790192
rs1790192
CXCR5
1 1.000 0.120 11 118886482 non coding transcript exon variant G/A;C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs78440425
rs78440425
CXCR5
1 1.000 0.120 11 118888302 intron variant G/A snv 1.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs6467
rs6467
CYP21A2
3 0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03 0.010 1.000 1 2009 2009
dbSNP: rs2070673
rs2070673
CYP2E1 ; LOC107984284
5 0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs758837678
rs758837678
DECR1 ; NBN
2 0.925 0.120 8 90001503 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2009 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2009 2015
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs606231364
rs606231364
FAS
2 0.925 0.160 10 89003071 missense variant G/A snv 0.700 0
dbSNP: rs758835365
rs758835365
FAS
1 1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2006 2006