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: 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: 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: 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: rs909253
rs909253
LTA ; LOC100287329
0.641 0.600 6 31572536 intron variant A/G;T snv
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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