rs74315368, SDHB

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.
PARAGANGLIOMAS 4
CUI: C1861848
Disease: PARAGANGLIOMAS 4
67 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 19 2001 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 15 2001 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 16 2004 2015
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 6 2002 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0