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: 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: rs7464572
rs7464572
PLEC ; MIR661
3 8 143946999 intron variant C/A;G snv 0.800 1.000 2 2013 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: 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: 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: 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: 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