CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Disease: Hyperparathyroidism, Primary ×
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: rs551236750
rs551236750 		1.000 0.040 12 12717760 5 prime UTR variant C/T snv 2.1E-04
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.700 0
dbSNP: rs774454456
rs774454456 		0.925 0.120 12 12717808 5 prime UTR variant AGAG/- delins 3.8E-04 3.8E-04
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.700 0