NRP1, neuropilin 1, 8829

N. diseases: 246; N. variants: 13
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: rs2228638
rs2228638
1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.820 1.000 3 2013 2018
dbSNP: rs10080
rs10080
1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018