rs565224393, NARS2

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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
CUI: C4015643
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
11 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.010 1 2015 2015
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015