SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Disease: Keratoconus ×
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: rs6609533
rs6609533 		0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.020 1.000 2 2017 2020