rs774277300, MRE11

N. diseases: 17
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 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 1.000 2 2015 2016
Ataxia-Telangiectasisa-Like Disorder 1
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
15 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Distal amyotrophy
CUI: C1848736
Disease: Distal amyotrophy
7 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Lower limb spasticity
CUI: C1271100
Disease: Lower limb spasticity
5 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0