PDE3A, phosphodiesterase 3A, 5139

N. diseases: 6; N. variants: 23
Disease: Brachydactyly with hypertension ×
Source: CURATED ×
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: rs794726864
rs794726864 		1.000 0.120 12 20616294 missense variant C/A;G snv
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs794726865
rs794726865 		1.000 0.120 12 20616293 missense variant A/G snv
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs794726866
rs794726866 		1.000 0.120 12 20616299 missense variant G/A snv
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs794726867
rs794726867 		1.000 0.120 12 20616300 missense variant C/T snv
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs794726868
rs794726868 		1.000 0.120 12 20616306 missense variant G/T snv
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0