Source: BEFREE

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