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: rs10034922
rs10034922 		3 4 154599476 downstream gene variant G/A snv 5.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs1012793
rs1012793
IRF1-AS1
1 5 132445653 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10157379
rs10157379
NLRP3
3 1 247442297 intron variant C/G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs1016988
rs1016988 		4 5 132408882 upstream gene variant T/C snv 0.20 0.800 1.000 1 2009 2009
dbSNP: rs1019670
rs1019670
MS4A6A
1 11 60173126 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs10226084
rs10226084 		3 7 17957989 upstream gene variant T/C snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs1029738
rs1029738
LOC112267993
1 7 22834428 downstream gene variant C/A snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs1035560
rs1035560
PKD1L3
1 16 71998831 intron variant T/A;C snv 0.38 0.700 1.000 2 2016 2017
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs10489615
rs10489615
GALNT2
3 1 230169242 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10512597
rs10512597
CD300LF ; RAB37
4 17 74703694 intron variant T/A;C snv 0.800 1.000 3 2009 2017
dbSNP: rs10519203
rs10519203
HYKK
8 0.851 0.080 15 78521704 intron variant G/A snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs10761756
rs10761756
JMJD1C
1 10 63412568 intron variant C/T snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs10864726
rs10864726
GALNT2
1 1 230160406 intron variant C/T snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs10950690
rs10950690
SNX13
1 7 17941687 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11102001
rs11102001
GSTM5 ; EPS8L3
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs11136252
rs11136252
PARP10 ; SPATC1
1 8 144010325 intron variant T/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs11230201
rs11230201
MS4A4A ; MS4A4E
2 1.000 0.080 11 60229521 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs11242111
rs11242111
IRF1-AS1 ; LINC02863
3 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1154988
rs1154988 		7 3 136206349 upstream gene variant T/A snv 0.76 0.800 1.000 1 2013 2013
dbSNP: rs11630054
rs11630054
SPPL2A
1 15 50723495 intron variant T/G snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs11780978
rs11780978
PLEC
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs11859517
rs11859517
CHD9
1 16 53147335 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11864453
rs11864453
DHODH
1 16 72016581 non coding transcript exon variant C/T snv 0.39 0.700 1.000 1 2017 2017