SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
Disease: Myopia, Degenerative ×
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: rs4557020
rs4557020 		1.000 0.040 2 54491044 intron variant T/A;C snv
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		Eye Diseases 0.700 1.000 1 2012 2012