RS112775908 ATM

Health Risk Chr 11:108332044 snv splice region variant
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Associated Conditions
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Intellectual disability
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Intellectual disability
Population Frequencies
gnomAD ALL
0.3%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
99.7%
1kG SAS
100%
Other Variants in ATM
rs786203976 rs587776547 rs796051856 rs774925473 rs121434216 rs28904921 rs55861249 rs121434218 rs121434219 rs267606668
Ask Dr. Hemsworth about this variant