rs34677591, SDHD;TIMM8B

N. diseases: 12
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.
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.020 1.000 2 2006 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.020 1.000 2 2006 2012
Pheochromocytoma, Extra-Adrenal
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
5 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.020 1.000 2 2000 2002
Differentiated Thyroid Gland Carcinoma
80 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2015 2015
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
Multiple Endocrine Neoplasia Type 2a
44 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2012 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2015 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2002 2002
Primary differentiated carcinoma of thyroid gland
41 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017