Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.720 GeneticVariation BEFREE We engineered WM cells to express the most common WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis), CXCR(S338X) mutation in WM. 24912431

2015
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		0.720 GeneticVariation BEFREE We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas. 24711662

2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome 		C 0.720 CausalMutation CLINVAR

dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.030 GeneticVariation BEFREE The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing. 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.030 GeneticVariation BEFREE Last, CXCR4(S338X) WM cells showed varying levels of resistance to other WM relevant therapeutics, including bendamustine, fludarabine, bortezomib and idelalisib in the presence of SDF-1a. 24912431

2015
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		0.030 GeneticVariation BEFREE C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. 24711662

2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		0.010 GeneticVariation BEFREE The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing. 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies 		0.010 GeneticVariation BEFREE The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing. 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Cancer cell fraction analysis in WM and IgM MGUS patients showed CXCR4(S338X) mutations were primarily subclonal, with highly variable clonal distribution (median 35·1%, range 1·2-97·5%). 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
IgM monoclonal gammopathy of uncertain significance 		0.010 GeneticVariation BEFREE Cancer cell fraction analysis in WM and IgM MGUS patients showed CXCR4(S338X) mutations were primarily subclonal, with highly variable clonal distribution (median 35·1%, range 1·2-97·5%). 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Cancer cell fraction analysis in WM and IgM MGUS patients showed CXCR4(S338X) mutations were primarily subclonal, with highly variable clonal distribution (median 35·1%, range 1·2-97·5%). 26659815

2016
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation BEFREE We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas. 24711662

2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation BEFREE C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. 24711662

2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		0.010 GeneticVariation BEFREE We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas. 24711662

2014
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 GeneticVariation BEFREE We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas. 24711662

2014