rs759130031, MRE11

N. diseases: 3
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-LIKE DISORDER
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
13 0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 0.700 1.000 4 2011 2017
Ataxia-Telangiectasisa-Like Disorder 1
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
15 0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 0.700 1.000 1 2011 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 0.700 1.000 1 2011 2011