rs202101384, SDHB

N. diseases: 6
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.
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
67 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012
Succinate-coenzyme Q reductase deficiency
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012