CDC73, cell division cycle 73, 79577

N. diseases: 144; N. variants: 31
Disease: HYPERPARATHYROIDISM 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434264
rs121434264 		0.851 0.080 1 193125171 missense variant T/C snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.800 1.000 5 2002 2008
dbSNP: rs1060500015
rs1060500015 		1.000 0.040 1 193125168 missense variant T/C snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 1.000 5 2002 2008
dbSNP: rs1057519419
rs1057519419 		1.000 0.040 1 193125110 splice acceptor variant A/G;T snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 0
dbSNP: rs587776558
rs587776558 		0.925 0.040 1 193122332 splice donor variant G/A snv
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 0
dbSNP: rs80356649
rs80356649 		0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06
CUI: C1840402
Disease: HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 1 		Endocrine System Diseases 0.700 0