LIM2, lens intrinsic membrane protein 2, 3982

N. diseases: 23; 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: rs121913555
rs121913555 		1.000 19 51382430 missense variant A/C snv 1.2E-05 7.0E-06
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES 		0.800 1.000 1 2002 2002
dbSNP: rs1568480054
rs1568480054 		0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs1568480054
rs1568480054 		0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312732
rs869312732 		1.000 19 51380262 missense variant C/T snv
CUI: C3809004
Disease: CATARACT 19, MULTIPLE TYPES
CATARACT 19, MULTIPLE TYPES 		0.700 0