TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
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: rs121909073
rs121909073 		1.000 0.080 6 35503623 missense variant C/G;T snv
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 5 1998 2010
dbSNP: rs121909074
rs121909074 		1.000 0.080 6 35500005 missense variant A/G snv
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 5 1998 2010
dbSNP: rs121909075
rs121909075 		1.000 0.080 6 35500100 missense variant A/G;T snv 4.3E-04
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 5 1998 2010
dbSNP: rs121909076
rs121909076 		0.925 0.080 6 35503816 missense variant A/G snv 8.0E-06
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 5 1998 2010
dbSNP: rs121909077
rs121909077 		1.000 0.080 6 35500032 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 5 1998 2010
dbSNP: rs387906836
rs387906836 		0.851 0.080 6 35503763 missense variant G/A snv
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.800 1.000 2 2004 2007
dbSNP: rs387906837
rs387906837 		1.000 6 35505751 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		0.800 1.000 2 2004 2007
dbSNP: rs141980901
rs141980901 		1.000 0.080 6 35499990 missense variant C/T snv 8.6E-04 1.1E-03
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1998 2010
dbSNP: rs148749577
rs148749577 		1.000 0.080 6 35503828 missense variant C/A;T snv 7.7E-05 9.8E-05
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1998 2010
dbSNP: rs62636511
rs62636511 		0.925 0.080 6 35500010 missense variant T/C snv 2.0E-05
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1998 2010
dbSNP: rs62636707
rs62636707 		1.000 0.080 6 35509297 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1998 2010
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		0.700 1.000 1 2017 2017
dbSNP: rs1327062642
rs1327062642 		0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.700 1.000 1 2017 2017
dbSNP: rs121909076
rs121909076 		0.925 0.080 6 35503816 missense variant A/G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs138200747
rs138200747 		1.000 0.080 6 35500115 missense variant G/A;T snv 5.2E-05 1.1E-04
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554125752
rs1554125752 		0.925 0.080 6 35506146 frameshift variant -/G delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0