rs730881391, ATM

N. diseases: 2
Source: CLINVAR ×
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
661 1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06 0.800 1.000 3 1999 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06 0.700 1.000 4 1999 2016