rs764575966, SDHC

N. diseases: 8
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 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 9 2007 2017
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
Hereditary Paraganglioma-Pheochromocytoma Syndrome
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
98 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
9 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2014 2014