rs752169833, CHCHD2

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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2019 2019
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.800 1.000 1 2015 2015
Sporadic Parkinson disease
CUI: C4511452
Disease: Sporadic Parkinson disease
65 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2016 2016