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: 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: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2012 2012
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2004 2004
dbSNP: rs553062694
rs553062694
CXCR4
1.000 0.080 2 136116611 intron variant C/T snv 6.7E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis 		0.010 1.000 1 2006 2006
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis 		0.010 1.000 1 2006 2006
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 1.000 1 2011 2011
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2014 2014
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 1.000 2 2010 2012
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2009 2015
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs781172058
rs781172058
CXCR4
0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 1.000 2 2010 2012
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.010 1.000 1 2003 2003
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque 		0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
0.925 0.040 2 136115158 missense variant A/G snv
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2003 2003
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2012 2012
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2009 2009