rs1057518965, ATM

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
Conjunctival telangiectasis
CUI: C0239105
Disease: Conjunctival telangiectasis
1 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0