PROKR2, prokineticin receptor 2, 128674

N. diseases: 164; N. variants: 25
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: rs201023639
rs201023639
1.000 0.080 20 5302084 missense variant C/G;T snv 4.4E-05; 6.0E-05
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013