Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893894
rs104893894
IL7R
0.800 GeneticVariation UNIPROT A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 11023514

2000
dbSNP: rs104893894
rs104893894
IL7R
0.800 GeneticVariation UNIPROT Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216

1998
dbSNP: rs104893894
rs104893894
IL7R
T 0.800 CausalMutation CLINVAR

dbSNP: rs193922641
rs193922641
IL7R
A 0.700 CausalMutation CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609

2016
dbSNP: rs199641706
rs199641706
IL7R
A 0.700 CausalMutation CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609

2016
dbSNP: rs200803157
rs200803157
IL7R ; LOC105374724
A 0.700 GeneticVariation CLINVAR Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. 26123418

2015
dbSNP: rs193922641
rs193922641
IL7R
A 0.700 CausalMutation CLINVAR Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. 24759676

2014
dbSNP: rs869312857
rs869312857
IL7R
CA 0.700 CausalMutation CLINVAR Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. 25046553

2014
dbSNP: rs200803157
rs200803157
IL7R ; LOC105374724
A 0.700 GeneticVariation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875

2011
dbSNP: rs193922641
rs193922641
IL7R
A 0.700 CausalMutation CLINVAR IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 17827065

2007
dbSNP: rs193922641
rs193922641
IL7R
A 0.700 CausalMutation CLINVAR Omenn syndrome in an infant with IL7RA gene mutation. 16492442

2006
dbSNP: rs193922641
rs193922641
IL7R
A 0.700 CausalMutation CLINVAR Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 15661025

2005
dbSNP: rs1553243550
rs1553243550
PTPRC
A 0.700 GeneticVariation CLINVAR Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. 10700239

2000
dbSNP: rs199641706
rs199641706
IL7R
A 0.700 CausalMutation CLINVAR Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216

1998
dbSNP: rs104893893
rs104893893
IL7R
A 0.700 CausalMutation CLINVAR

dbSNP: rs1315265916
rs1315265916
IL7R
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554066684
rs1554066684
IL7R
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554067182
rs1554067182
IL7R
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1561423197
rs1561423197
IL7R
C 0.700 CausalMutation CLINVAR

dbSNP: rs200044623
rs200044623
IL7R ; LOC105374724
G 0.700 CausalMutation CLINVAR

dbSNP: rs398122383
rs398122383
PTPRC
T 0.700 CausalMutation CLINVAR

dbSNP: rs766555082
rs766555082
IL7R
G 0.700 CausalMutation CLINVAR