Source: BEFREE

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: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2014 2020
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2014 2014
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2016 2016
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2009 2009
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2015 2015
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 1.000 1 2014 2014
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0023281
Disease: Leishmaniasis
Leishmaniasis 		0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2016 2016
dbSNP: rs114465251
rs114465251
HLA-G
0.925 0.120 6 29830642 intron variant G/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2012 2012
dbSNP: rs114465251
rs114465251
HLA-G
0.925 0.120 6 29830642 intron variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs12722477
rs12722477
HLA-G
1.000 0.120 6 29828599 missense variant C/A snv 0.14 0.14
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs1610696
rs1610696
HLA-G
0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2017 2017
dbSNP: rs1610696
rs1610696
HLA-G
0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2017 2017
dbSNP: rs1632933
rs1632933
HLA-G
1.000 0.040 6 29830156 intron variant C/T snv 0.48
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2012 2012
dbSNP: rs1707
rs1707
HLA-G
0.925 0.120 6 29830833 3 prime UTR variant C/T snv 0.87
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2016 2016
dbSNP: rs1707
rs1707
HLA-G
0.925 0.120 6 29830833 3 prime UTR variant C/T snv 0.87
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2015 2015
dbSNP: rs371194629
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs371194629
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs371194629
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2017 2017
dbSNP: rs371194629
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs371194629
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2016 2016