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: rs1799864
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2002 2002
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: rs1020608562
rs1020608562
CCR5 ; CCR5AS
0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs3732378
rs3732378
CX3CR1
0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs3732379
rs3732379
CX3CR1
0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2005 2005
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: 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: rs12198173
rs12198173
TNXB
0.827 0.240 6 32059031 intron variant G/A snv 0.10
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: 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: 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: rs1369619997
rs1369619997
KIDINS220
2 8731746 missense variant G/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs2248462
rs2248462 		0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs2284178
rs2284178
HCP5
0.925 0.120 6 31464348 non coding transcript exon variant C/T snv 0.44
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs2395029
rs2395029
HCP5
0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.800 1.000 1 2009 2009
dbSNP: rs2516509
rs2516509
MICB-DT
0.882 0.160 6 31482217 intron variant T/C snv 0.19
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs2844511
rs2844511 		0.807 0.200 6 31422007 intron variant A/G;T snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 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
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: rs3093662
rs3093662
TNF
0.851 0.200 6 31576412 intron variant A/G 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: 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: 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: rs374596032
rs374596032
KIDINS220
2 8813255 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 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