CXCR4, C-X-C motif chemokine receptor 4, 7852

N. diseases: 739; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893624
rs104893624 		0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases 0.750 1.000 9 2003 2016
dbSNP: rs104893626
rs104893626 		0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 2 2014 2015
dbSNP: rs104893624
rs104893624 		0.851 0.200 2 136114928 stop gained G/A snv
CUI: C1834176
Disease: MYELOKATHEXIS, ISOLATED
MYELOKATHEXIS, ISOLATED 		0.700 0
dbSNP: rs104893625
rs104893625 		1.000 0.160 2 136114901 stop gained C/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs1240625960
rs1240625960 		1.000 0.160 2 136114934 stop gained C/A;T snv 4.0E-06
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs730880320
rs730880320 		1.000 0.160 2 136114911 frameshift variant GA/- delins
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs767830104
rs767830104 		0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.050 1.000 5 2001 2012
dbSNP: rs104893626
rs104893626 		0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.030 1.000 3 2014 2016
dbSNP: rs371074389
rs371074389 		0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2006 2015
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.030 1.000 3 2002 2014
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.030 1.000 3 2001 2011
dbSNP: rs766914563
rs766914563 		0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2006 2015
dbSNP: rs781172058
rs781172058 		0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2006 2015
dbSNP: rs2228014
rs2228014 		0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014 		0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014 		0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2018
dbSNP: rs371074389
rs371074389 		0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2009 2012
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2010 2012
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2012 2015
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2010 2012
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 0.500 2 2015 2019
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2012 2015
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs763059810
rs763059810 		0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2010 2012