SYNPO, synaptopodin, 11346

N. diseases: 37; 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: rs775831849
rs775831849
1.000 0.160 5 150648168 missense variant C/A;T snv 5.8E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015