CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
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: rs28939068
rs28939068
0.790 0.200 20 23635330 missense variant A/T snv
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2008 2008