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
dbSNP: rs267607033
rs267607033 		0.925 0.080 1 156162993 missense variant G/C snv 1.4E-05
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2006 2006
dbSNP: rs267607034
rs267607034 		0.882 0.080 1 156163009 missense variant T/G snv
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2006 2006
dbSNP: rs76719272
rs76719272 		1 156160005 intron variant C/T snv 8.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs267607034
rs267607034 		0.882 0.080 1 156163009 missense variant T/G snv
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs41265017
rs41265017 		1.000 0.080 1 156176849 missense variant G/A snv 3.7E-02 3.2E-02
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs763670204
rs763670204 		1.000 0.160 1 156156506 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014