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: rs1041163
rs1041163
VCAM1
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 1.000 1 2007 2007
dbSNP: rs4648022
rs4648022
NFKB1
1 1.000 0.120 4 102575280 intron variant C/A;T snv 0.010 1.000 1 2008 2008
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: rs1785882
rs1785882
CARD16 ; LOC107984381
1 1.000 0.120 11 105052348 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs2582869
rs2582869
TNFSF13B
1 1.000 0.120 13 108259797 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs227060
rs227060
ATM ; C11orf65
3 0.882 0.160 11 108334154 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs3789068
rs3789068
BCL2L11 ; MIR4435-2HG
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs2637988
rs2637988
IL1RN
1 1.000 0.120 2 113119202 intron variant G/A snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 2003 2018
dbSNP: rs9610
rs9610
IL10RA ; SMIM35
4 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs6421571
rs6421571 		6 0.851 0.200 11 118873063 intergenic variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs80202369
rs80202369 		1 1.000 0.120 11 118873150 intergenic variant G/A snv 6.6E-03 0.010 1.000 1 2012 2012
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: rs2509049
rs2509049
H2AX
6 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1045241
rs1045241
TNFAIP8
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2012 2013
dbSNP: rs16917496
rs16917496
KMT5A
21 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014