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: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.800 1.000 2 2009 2019
dbSNP: rs9402686
rs9402686
LOC105378010
5 6 135106679 upstream gene variant G/A snv 0.20 0.800 1.000 2 2009 2014
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs11970772
rs11970772
CCND3
5 6 41957552 intron variant T/A snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs17609240
rs17609240
GSDMA
1 17 39954436 intron variant T/A;G snv 0.800 1.000 1 2009 2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs2227139
rs2227139 		4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.800 1.000 1 2009 2009
dbSNP: rs5756506
rs5756506
TMPRSS6
4 22 37071352 intron variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs9609565
rs9609565 		3 22 32471541 upstream gene variant G/A snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 7 2010 2019
dbSNP: rs4065321
rs4065321
PSMD3
2 17 39987295 intron variant C/T snv 0.56 0.700 1.000 3 2010 2019
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.700 1.000 2 2010 2014
dbSNP: rs12313946
rs12313946 		1 12 68567804 intergenic variant C/A snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs3094212
rs3094212
CDSN ; PSORS1C1
5 1.000 6 31117993 non coding transcript exon variant G/A snv 0.58 0.700 1.000 1 2010 2010
dbSNP: rs2524079
rs2524079
HLA-B
6 6 31274397 intron variant G/A snv 0.44 0.800 1.000 4 2011 2019
dbSNP: rs4794822
rs4794822 		3 17 40000459 downstream gene variant C/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.800 1.000 3 2011 2019
dbSNP: rs2340727
rs2340727 		2 1 161976937 intergenic variant A/G snv 0.33 0.800 1.000 3 2011 2019
dbSNP: rs2518564
rs2518564
AIM2
1 1 159092646 intron variant G/A snv 0.60 0.800 1.000 3 2011 2019
dbSNP: rs4657616
rs4657616
IFI16 ; PYDC5
2 1 159001296 intron variant A/G snv 0.31 0.800 1.000 3 2011 2019
dbSNP: rs8078723
rs8078723 		3 1.000 0.080 17 40010626 upstream gene variant T/C snv 0.36 0.800 1.000 3 2011 2019
dbSNP: rs11264422
rs11264422 		1 1 155938032 upstream gene variant T/A snv 0.48 0.800 1.000 2 2011 2019
dbSNP: rs1962508
rs1962508 		1 1 161975629 intergenic variant C/A snv 0.45 0.800 1.000 2 2011 2019
dbSNP: rs1006310
rs1006310
ATF6
1 1 161841765 intron variant T/C;G snv 0.700 1.000 1 2011 2011