rs1057523165, SDHA

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 Complex II Deficiency
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
45 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2012 2015
PARAGANGLIOMAS 5
CUI: C3279992
Disease: PARAGANGLIOMAS 5
39 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2012 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06 0.700 0