RAB28, RAB28, member RAS oncogene family, 9364

N. diseases: 16; 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: rs751163782
rs751163782 		0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2013 2015
dbSNP: rs751163782
rs751163782 		0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 1.000 2 2013 2015
dbSNP: rs751163782
rs751163782 		0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 2 2013 2015
dbSNP: rs751163782
rs751163782 		0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.700 1.000 2 2013 2015
dbSNP: rs751163782
rs751163782 		0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778 		0.882 0.040 4 13479429 splice donor variant C/G snv
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778 		0.882 0.040 4 13479429 splice donor variant C/G snv
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778 		0.882 0.040 4 13479429 splice donor variant C/G snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778 		0.882 0.040 4 13479429 splice donor variant C/G snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778 		0.882 0.040 4 13479429 splice donor variant C/G snv
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 2 2013 2015
dbSNP: rs1560141393
rs1560141393 		1.000 4 13460734 frameshift variant CT/- delins
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		0.700 0
dbSNP: rs398123044
rs398123044 		0.882 0.080 4 13381577 stop gained G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		0.700 0
dbSNP: rs398123044
rs398123044 		0.882 0.080 4 13381577 stop gained G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs786200944
rs786200944 		0.925 0.080 4 13376553 stop gained G/A;T snv
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		0.700 0
dbSNP: rs398123044
rs398123044 		0.882 0.080 4 13381577 stop gained G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06
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 2013 2013
dbSNP: rs786200944
rs786200944 		0.925 0.080 4 13376553 stop gained G/A;T snv
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 2013 2013