SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
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: rs1046974
rs1046974 		2 233346901 missense variant G/A;T snv 0.37
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1046974
rs1046974 		2 233346901 missense variant G/A;T snv 0.37
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs11891546
rs11891546 		2 233324076 intron variant T/G snv 0.46
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11891546
rs11891546 		2 233324076 intron variant T/G snv 0.46
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs1324934886
rs1324934886 		1.000 0.080 2 233322968 stop gained C/G;T snv 7.0E-06
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs201153410
rs201153410 		0.925 0.080 2 233328542 stop gained C/T snv 1.3E-04 2.0E-04
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs397514681
rs397514681 		1.000 0.080 2 233335029 stop gained C/G;T snv 5.6E-05; 4.8E-05
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs397514682
rs397514682 		0.925 0.080 2 233335071 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587776778
rs587776778 		0.925 0.080 2 233335079 frameshift variant A/- delins
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587776778
rs587776778 		0.925 0.080 2 233335079 frameshift variant A/- delins
CUI: C3151061
Disease: RETINITIS PIGMENTOSA 47
RETINITIS PIGMENTOSA 47 		0.700 0
dbSNP: rs587777209
rs587777209 		1.000 0.080 2 233328488 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs201153410
rs201153410 		0.925 0.080 2 233328542 stop gained C/T snv 1.3E-04 2.0E-04
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs397514682
rs397514682 		0.925 0.080 2 233335071 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs753107507
rs753107507 		1.000 0.080 2 233327125 missense variant G/T snv 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018