rs764931850, LONP1

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.
CODAS syndrome
CUI: C1838180
Disease: CODAS syndrome
12 0.882 0.280 19 5696750 missense variant A/G snv 0.010 1 2018 2018
Congenital lactic acidosis
CUI: C4025276
Disease: Congenital lactic acidosis
5 0.882 0.280 19 5696750 missense variant A/G snv 0.010 1 2018 2018
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.280 19 5696750 missense variant A/G snv 0.010 1 2018 2018