OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Gyrate Atrophy ×
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: rs11553554
rs11553554 		1.000 0.080 10 124412020 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554867698
rs1554867698 		1.000 0.080 10 124411967 splice donor variant ACGTACCT/TTAA delins
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554867854
rs1554867854 		1.000 0.080 10 124412119 frameshift variant -/CTCC delins
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1564737136
rs1564737136 		1.000 0.080 10 124408943 splice acceptor variant CTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAATT/- delins
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs200068769
rs200068769 		1.000 0.080 10 124398070 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833599
rs386833599 		1.000 0.080 10 124412013 frameshift variant G/- del 4.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965057
rs121965057 		1.000 0.080 10 124402930 stop gained G/C snv 1.6E-05 2.8E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1992 2012
dbSNP: rs121965043
rs121965043 		1.000 0.080 10 124398057 missense variant A/C;G snv 4.0E-06; 2.7E-04
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 8 1988 2013
dbSNP: rs386833621
rs386833621 		1.000 0.080 10 124401788 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 8 1988 2013
dbSNP: rs121965037
rs121965037 		1.000 0.080 10 124412009 missense variant A/G snv 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965038
rs121965038 		1.000 0.080 10 124408887 missense variant C/A snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965041
rs121965041 		1.000 0.080 10 124403019 missense variant C/G snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965042
rs121965042 		1.000 0.080 10 124403015 missense variant C/T snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965044
rs121965044 		1.000 0.080 10 124398012 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 7 1988 2013
dbSNP: rs121965045
rs121965045 		1.000 0.080 10 124400875 missense variant C/G snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965046
rs121965046 		1.000 0.080 10 124403835 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965048
rs121965048 		1.000 0.080 10 124412010 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965049
rs121965049 		1.000 0.080 10 124401785 missense variant G/A snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965051
rs121965051 		1.000 0.080 10 124403847 missense variant G/A;C snv 3.6E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 7 1988 2013
dbSNP: rs121965052
rs121965052 		1.000 0.080 10 124403820 missense variant C/G;T snv 4.8E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965053
rs121965053 		1.000 0.080 10 124400941 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965054
rs121965054 		1.000 0.080 10 124398082 missense variant A/G snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965059
rs121965059 		0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 7 1988 2013
dbSNP: rs121965060
rs121965060 		1.000 0.080 10 124408897 missense variant G/C snv
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013