Gene: C11orf65 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501650
rs1060501650
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs1131691149
rs1131691149
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs1131691156
rs1131691156
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691162
rs1131691162
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176

2016
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs1398616877
rs1398616877
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555110418
rs1555110418
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555113762
rs1555113762
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555119041
rs1555119041
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555121066
rs1555121066
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555126163
rs1555126163
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1555126163
rs1555126163
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. 17910737

2008
dbSNP: rs1555135341
rs1555135341
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555143538
rs1555143538
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555143620
rs1555143620
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1565499093
rs1565499093
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000