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: 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: rs9368699
rs9368699
SNORD48 ; SNHG32
0.851 0.200 6 31834764 non coding transcript exon variant T/C snv 3.2E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.700 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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: 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: 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: rs1800629
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2019 2019
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: 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: 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: rs241447
rs241447
TAP2
0.827 0.280 6 32828974 missense variant T/C snv 0.31 0.26
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2020 2020