NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; N. variants: 30
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: rs587777595
rs587777595
0.925 0.080 9 35807333 missense variant G/A snv
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012