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: 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: rs1194919682
rs1194919682
CXCR4 ; LOC112268426
0.925 0.040 2 136115158 missense variant A/G snv
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2011 2011
dbSNP: rs2471859
rs2471859
CXCR4
1.000 0.040 2 136116434 intron variant A/G snv 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2018 2018
dbSNP: rs104893625
rs104893625
CXCR4 ; LOC112268426
1.000 0.160 2 136114901 stop gained C/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.700 0
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs770327175
rs770327175
CXCR4
0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2015 2015
dbSNP: rs910532454
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2009 2009
dbSNP: rs910532454
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs910532454
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs910532454
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs1240625960
rs1240625960
CXCR4 ; LOC112268426
1.000 0.160 2 136114934 stop gained C/A;T snv 4.0E-06
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.700 0
dbSNP: rs769772228
rs769772228
CXCR4
0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs769772228
rs769772228
CXCR4
0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs767830104
rs767830104
CXCR4
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 		0.050 1.000 5 2001 2012
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2008 2012
dbSNP: rs767830104
rs767830104
CXCR4
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2008 2012
dbSNP: rs756207760
rs756207760
CXCR4
2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 1.000 1 1999 1999
dbSNP: rs756207760
rs756207760
CXCR4
2 136115275 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.010 1.000 1 1999 1999
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: 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2016 2016
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