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.
HYPERPARATHYROIDISM 1
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
6 0.851 0.080 1 193125171 missense variant T/C snv 0.800 1.000 5 2002 2008
Familial Isolated Hyperparathyroidism
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
4 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
Malignant tumor of parathyroid gland
CUI: C0153653
Disease: Malignant tumor of parathyroid gland
1 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2009 2009
Parathyroid Gland Adenocarcinoma
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
22 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
Parathyroid Neoplasms
CUI: C0030521
Disease: Parathyroid Neoplasms
9 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005