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: rs1272938495
rs1272938495
CXCR4 ; LOC112268426
1.000 2 136115225 missense variant G/A snv 4.0E-06 7.0E-06
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: 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: 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: rs764148917
rs764148917
CXCR4
2 136115282 synonymous variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
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: 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: rs1333957805
rs1333957805
CXCR4
1.000 0.040 2 136115639 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 1.000 1 2005 2005
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: rs375868851
rs375868851
CXCR4
1.000 0.040 2 136115889 synonymous variant G/A;C snv 5.2E-05; 8.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2009 2009
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
dbSNP: rs147198552
rs147198552
CXCR4
0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
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: 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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		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: 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: 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: 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		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: rs104893624
rs104893624
CXCR4 ; LOC112268426
0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.750 1.000 5 2003 2016