rs201286421, SDHC

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 9 2008 2017
Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 6 2008 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
9 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.010 1 2018 2018