rs199476143, ND1;TRNV

N. diseases: 2
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.
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.925 0.200 MT 1606 non coding transcript exon variant G/A snv 0.700 1.000 3 1998 2010
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
CUI: C4016634
Disease: ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
1 0.925 0.200 MT 1606 non coding transcript exon variant G/A snv 0.700 0