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: rs11884476
rs11884476
PARD3B
1 2 205453869 intron variant C/G snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs1369619997
rs1369619997
KIDINS220
1 2 8731746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs374596032
rs374596032
KIDINS220
1 2 8813255 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4118325
rs4118325 		1 1 107035210 intergenic variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs6467710
rs6467710
DGKI
1 7 137519073 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs7756521
rs7756521
DDR1
5 1.000 6 30880476 intron variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs919266
rs919266
BST2
1 19 17403506 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs13194504
rs13194504 		3 0.925 0.120 6 28662914 intergenic variant G/A snv 5.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs2284178
rs2284178
HCP5
6 0.925 0.120 6 31464348 non coding transcript exon variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs2844513
rs2844513 		6 0.925 0.120 6 31420437 intron variant G/A snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs3823418
rs3823418
PSORS1C1
8 0.925 0.120 6 31133165 intron variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs527476195
rs527476195
PSORS1C1
6 0.925 0.120 6 31133165 intron variant G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1020608562
rs1020608562
CCR5 ; CCR5AS
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1233579
rs1233579 		3 0.925 0.160 6 28744886 intergenic variant A/G snv 7.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs14158
rs14158
LDLR
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2516509
rs2516509
MICB-DT
7 0.882 0.160 6 31482217 intron variant T/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs2894207
rs2894207
HLA-B ; LINC02571
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs3117143
rs3117143
LOC100129636
4 0.882 0.160 6 29063365 intron variant C/A snv 5.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs3131093
rs3131093 		3 0.925 0.160 6 28869660 intergenic variant C/T snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs3749971
rs3749971
OR5V1 ; OR12D3
4 0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs2844511
rs2844511 		10 0.807 0.200 6 31422007 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3093662
rs3093662
TNF
9 0.851 0.200 6 31576412 intron variant A/G snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs3815087
rs3815087
PSORS1C1
8 0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs9368699
rs9368699
SNORD48 ; SNHG32
8 0.851 0.200 6 31834764 non coding transcript exon variant T/C snv 3.2E-02 0.700 1.000 1 2009 2009