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.
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
56 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.050 1.000 5 2011 2016
THYROID CARCINOMA, SPORADIC MEDULLARY
6 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.030 1.000 3 2004 2009
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
136 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.020 1.000 2 2006 2009
Multiple Endocrine Neoplasia Type 2a
36 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.020 0.500 2 2004 2006
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
225 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.020 1.000 2 2006 2009
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
74 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.020 1.000 2 2005 2016
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
159 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2009 2009
Desmoplastic
CUI: C1511789
Disease: Desmoplastic
3 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2016 2016
Desmoplastic melanoma
CUI: C1333280
Disease: Desmoplastic melanoma
2 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2016 2016
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
20 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2016 2016
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
79 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 1999 1999
melanoma
CUI: C0025202
Disease: melanoma
389 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2016 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
6 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2004 2004
Pancreatic Neoplasm
CUI: C0030297
Disease: Pancreatic Neoplasm
13 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2006 2006
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
125 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1 2014 2014
Primary vesicoureteric reflux
CUI: C0403622
Disease: Primary vesicoureteric reflux
1 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1 2009 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
35 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.010 1.000 1 2002 2002