rs104894302, 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.
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 13 2000 2017
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
34 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
Paragangliomas with Sensorineural Hearing Loss
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
41 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 3 2000 2012