Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501713
rs1060501713
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121434219
rs121434219
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1398616877
rs1398616877
A 0.700 GeneticVariation CLINVAR

dbSNP: rs147187700
rs147187700
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555120997
rs1555120997
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555122941
rs1555122941
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555126163
rs1555126163
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
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: rs1555127017
rs1555127017
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555137920
rs1555137920
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555137973
rs1555137973
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555143620
rs1555143620
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555143623
rs1555143623
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565499093
rs1565499093
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1565557607
rs1565557607
C 0.700 GeneticVariation CLINVAR

dbSNP: rs202206540
rs202206540
A 0.700 GeneticVariation CLINVAR Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 23946315

2013

dbSNP: rs202206540
rs202206540
A 0.700 GeneticVariation CLINVAR Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. 25572163

2015

dbSNP: rs202206540
rs202206540
A 0.700 GeneticVariation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 15054841

2004

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089

2012

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. 23566627

2013

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000