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: rs41364946
rs41364946
5 150656557 missense variant A/G snv 1.3E-02 1.8E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs6579797
rs6579797
1.000 0.040 5 150618566 missense variant G/A;C snv 6.7E-02; 1.3E-04
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2016 2016
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