rs1060503770, SDHD

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.
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2006 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.700 1.000 8 2002 2015
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.700 0
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006