rs137852763, MRE11

N. diseases: 6
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-Telangiectasisa-Like Disorder 1
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
15 0.851 0.320 11 94476318 missense variant C/G snv 0.720 1.000 2 2008 2008
ATAXIA-TELANGIECTASIA-LIKE DISORDER
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
13 0.851 0.320 11 94476318 missense variant C/G snv 0.020 1.000 2 2008 2008
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011
Oculovestibuloauditory syndrome
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
3 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011