Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
PARAGANGLIOMAS 2 (disorder) 		0.800 1.000 8 2010 2017
dbSNP: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 9 1981 2017
dbSNP: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2017