PLIN2, perilipin 2, 123

N. diseases: 100; N. variants: 3
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: rs111791351
rs111791351 		9 19111189 intron variant C/T snv 0.12
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs35568725
rs35568725 		0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs35568725
rs35568725 		0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs35568725
rs35568725 		0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
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