Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4118325
rs4118325 		1 107035210 intergenic variant G/A;T snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2009 2009
dbSNP: rs14158
rs14158
LDLR
0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2002 2002
dbSNP: rs6467710
rs6467710
DGKI
7 137519073 intron variant G/A;C snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2011 2011
dbSNP: rs919266
rs919266
BST2
19 17403506 intron variant T/C;G snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs11884476
rs11884476
PARD3B
2 205453869 intron variant C/G snv 0.11
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2011 2011
dbSNP: rs1800871
rs1800871
IL10 ; IL19
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs13194504
rs13194504 		0.925 0.120 6 28662914 intergenic variant G/A snv 5.1E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1233579
rs1233579 		0.925 0.160 6 28744886 intergenic variant A/G snv 7.2E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs4324798
rs4324798 		0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3131093
rs3131093 		0.925 0.160 6 28869660 intergenic variant C/T snv 7.1E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3117143
rs3117143
LOC100129636
0.882 0.160 6 29063365 intron variant C/A snv 5.2E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3749971
rs3749971
OR5V1 ; OR12D3
0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1235162
rs1235162
GABBR1
0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs8321
rs8321
ZNRD1
0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2009 2009
dbSNP: rs9261290
rs9261290
RNF39
0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3130380
rs3130380
HCG18 ; HCG17
0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs7756521
rs7756521
DDR1
1.000 6 30880476 intron variant T/C snv 0.25
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3815087
rs3815087
PSORS1C1
0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs3823418
rs3823418
PSORS1C1
0.925 0.120 6 31133165 intron variant G/A snv 0.23
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs527476195
rs527476195
PSORS1C1
0.925 0.120 6 31133165 intron variant G/A snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs2894207
rs2894207
HLA-B ; LINC02571
0.882 0.160 6 31295974 intron variant T/C snv 0.20
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
0.807 0.200 6 31306778 intron variant C/T snv 0.12
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2009 2009
dbSNP: rs2844513
rs2844513 		0.925 0.120 6 31420437 intron variant G/A snv 0.53
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009