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: rs1035560
rs1035560
PKD1L3
1 16 71998831 intron variant T/A;C snv 0.38 0.700 1.000 2 2016 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: rs1558643
rs1558643
IL1R1
1 2 102115231 intron variant T/C;G snv 0.700 1.000 2 2016 2017
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 2 2016 2017
dbSNP: rs1976714
rs1976714
PDIA5
1 3 123145924 intron variant G/T snv 0.32 0.700 1.000 2 2016 2017
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.700 1.000 2 2009 2013
dbSNP: rs2710804
rs2710804 		3 7 36044919 intron variant T/C snv 0.29 0.700 1.000 2 2016 2017
dbSNP: rs3138493
rs3138493
GADD45G ; LOC105376139
1 9 89604345 intron variant T/C snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs59104589
rs59104589
HDLBP
1 2 241298487 intron variant C/T snv 0.30 0.700 1.000 2 2016 2017
dbSNP: rs59950280
rs59950280
LOC105374354
4 4 3450618 upstream gene variant G/A snv 0.41 0.700 1.000 2 2016 2017
dbSNP: rs61812598
rs61812598
IL6R
4 1.000 0.080 1 154447611 intron variant G/A snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs7012814
rs7012814 		2 8 9315848 intron variant G/A;T snv 0.700 1.000 2 2016 2017
dbSNP: rs7224737
rs7224737
RAB5C
3 17 42137346 intron variant G/A snv 0.36 0.700 1.000 2 2016 2017
dbSNP: rs75347843
rs75347843
SHANK3
1 22 50673933 intron variant G/A;C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs7916868
rs7916868
JMJD1C
3 10 63229171 intron variant A/T snv 0.47 0.700 1.000 2 2016 2017
dbSNP: rs7934094
rs7934094
TTC17
1 11 43484157 intron variant T/G snv 0.15 0.700 1.000 2 2016 2017
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.700 1.000 2 2009 2017
dbSNP: rs9808651
rs9808651 		1 21 39094542 intergenic variant G/A snv 0.21 0.700 1.000 2 2016 2017
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: rs1019670
rs1019670
MS4A6A
1 11 60173126 missense variant T/A snv 0.700 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: 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