LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
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: rs199583537
rs199583537
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016