SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5
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: rs267607033
rs267607033
0.925 0.080 1 156162993 missense variant G/C snv 1.4E-05
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2006 2012
dbSNP: rs267607034
rs267607034
0.882 0.080 1 156163009 missense variant T/G snv
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2006 2012