Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1275561861
rs1275561861
HLA-A
0.020 GeneticVariation BEFREE These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y. 12850493

2004
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y. 12850493

2004
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087

2005
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087

2005
dbSNP: rs1275561861
rs1275561861
HLA-A
0.020 GeneticVariation BEFREE We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects. 15607698

2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects. 15607698

2005
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. 16630947

2006
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE This work demonstrates that TACI preassembles as an oligomeric complex prior to ligand binding and provides a mechanistic insight into how the heterozygous C104R TACI mutation can potentially lead to CVID. 17492055

2007
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466

2008
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466

2008
dbSNP: rs774837924
rs774837924
CD40
0.010 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466

2008
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation. 18981294

2009
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517

2009
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846

2009
dbSNP: rs746054383
rs746054383
ICOS
0.010 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517

2009
dbSNP: rs751216929
rs751216929
TNFRSF13B
0.010 GeneticVariation BEFREE In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in two patients with CVID and one, novel, heterozygous P42T mutation. 19629655

2009
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 20156508

2010
dbSNP: rs2066844
rs2066844
NOD2
0.010 GeneticVariation BEFREE Arg702trp polymorphisms were significantly less frequent than wild-type (WT) (P = 0·038) among international CVID patients with splenomegaly. 20646002

2010
dbSNP: rs10038271
rs10038271
HAVCR1
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs10127016
rs10127016
KANTR
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs11095197
rs11095197
TAB3
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs12387999
rs12387999
ZNF630
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs1336698
rs1336698
FGF14
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs16910534
rs16910534
LOC105378313
0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011
dbSNP: rs17140937
rs17140937 		0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890

2011