rs80338846, SDHD

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.
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 11 112088981 missense variant T/C snv 0.700 0
Glomus Tumor
CUI: C0017653
Disease: Glomus Tumor
5 0.882 0.080 11 112088981 missense variant T/C snv 0.010 1.000 1 2002 2002
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.882 0.080 11 112088981 missense variant T/C snv 0.010 1.000 1 2002 2002