rs786205436, SDHD

N. diseases: 5
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 0.882 0.080 11 112088972 missense variant A/G;T snv 0.810 1.000 1 2015 2015
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.080 11 112088972 missense variant A/G;T snv 0.700 1.000 3 2012 2015
Fatal infantile mitochondrial cardiomyopathy
CUI: C3532243
Disease: Fatal infantile mitochondrial cardiomyopathy
1 0.882 0.080 11 112088972 missense variant A/G;T snv 0.700 1.000 1 2015 2015
Succinate-coenzyme Q reductase deficiency
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
6 0.882 0.080 11 112088972 missense variant A/G;T snv 0.010 1.000 1 2015 2015