SP4, Sp4 transcription factor, 6671

N. diseases: 30; N. variants: 16
Disease: Cone-Rod Dystrophy 2 ×
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: rs149672683
rs149672683 		0.925 0.080 7 21430082 missense variant A/G snv 1.8E-02 6.5E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007