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: rs7968440
rs7968440
DIP2B
3 12 50740958 intron variant A/G snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs1476698
rs1476698
FARP2
3 2 241357034 intron variant A/G;T snv 0.800 1.000 2 2013 2017
dbSNP: rs11242111
rs11242111
IRF1-AS1 ; LINC02863
3 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs17690122
rs17690122 		3 5 132532143 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs35489971
rs35489971
CD300LF ; RAB37
2 1.000 0.040 17 74704804 missense variant A/G;T snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs511154
rs511154 		3 3 136232079 intergenic variant A/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs7916868
rs7916868
JMJD1C
3 10 63229171 intron variant A/T snv 0.47 0.700 1.000 2 2016 2017
dbSNP: rs2059503
rs2059503
FGB
3 4 154572267 downstream gene variant A/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1029738
rs1029738
LOC112267993
1 7 22834428 downstream gene variant C/A snv 0.23 0.700 1.000 1 2017 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: rs12651106
rs12651106
DCHS2
3 4 154379907 intron variant C/A snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs7464572
rs7464572
PLEC ; MIR661
3 8 143946999 intron variant C/A;G snv 0.800 1.000 2 2013 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: rs12777
rs12777
SLC22A4 ; MIR3936HG
6 5 132335969 synonymous variant C/G snv 3.1E-02 2.8E-02 0.800 1.000 2 2009 2016
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs4655582
rs4655582 		1 1 65687680 regulatory region variant C/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs7310615
rs7310615
SH2B3
12 0.882 12 111427245 intron variant C/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs10157379
rs10157379
NLRP3
3 1 247442297 intron variant C/G;T snv 0.800 1.000 2 2013 2016
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: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs13234724
rs13234724
GIMAP6
1 7 150628087 missense variant C/G;T snv 0.22 0.18 0.700 1.000 1 2017 2017
dbSNP: rs4508864
rs4508864 		3 4 154560137 upstream gene variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs62246343
rs62246343
LHFPL4
1 3 9501958 3 prime UTR variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7588285
rs7588285
COLEC11
3 2 3600596 intron variant C/G;T snv 0.700 1.000 1 2016 2016