PLIN2, perilipin 2, 123

N. diseases: 100; N. variants: 3
Disease: Retinitis Pigmentosa ×
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: rs768322837
rs768322837 		1.000 0.080 9 19119801 missense variant T/A;C snv 4.4E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1998 1998