IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
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: rs1403669200
rs1403669200 		1.000 0.160 16 1592504 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 5 2012 2017
dbSNP: rs199826737
rs199826737 		0.925 0.160 16 1571494 missense variant C/T snv 1.3E-04 9.1E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 5 2012 2017
dbSNP: rs201188361
rs201188361 		0.925 0.240 16 1592176 missense variant C/G;T snv 4.0E-06; 4.8E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 5 2012 2017
dbSNP: rs387907192
rs387907192 		0.925 0.160 16 1564074 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 5 2012 2017
dbSNP: rs387907193
rs387907193 		1.000 0.160 16 1587275 missense variant T/C snv
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 5 2012 2017
dbSNP: rs1441549097
rs1441549097 		1.000 16 1587222 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs145549969
rs145549969 		1.000 16 1525280 missense variant A/G snv 7.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs387907192
rs387907192 		0.925 0.160 16 1564074 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs559371453
rs559371453 		1.000 16 1511137 missense variant A/G snv 8.7E-06 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 1.000 3 2015 2016
dbSNP: rs431905520
rs431905520 		1.000 0.160 16 1518320 missense variant A/G snv
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs431905521
rs431905521 		0.882 0.320 16 1587961 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs758052634
rs758052634 		1.000 16 1580832 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.800 0
dbSNP: rs373111085
rs373111085 		1.000 0.160 16 1568260 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2012 2017
dbSNP: rs1555491448
rs1555491448 		0.925 0.160 16 1584257 missense variant A/G snv
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs767213195
rs767213195 		1.000 16 1526044 missense variant G/A snv 1.4E-05 2.8E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs772757427
rs772757427 		1.000 16 1602527 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs781117803
rs781117803 		1.000 16 1564075 missense variant G/A;C snv 8.0E-06
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		0.700 1.000 3 2015 2016
dbSNP: rs1085307074
rs1085307074 		1.000 0.160 16 1584409 frameshift variant C/- delins
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs140039128
rs140039128 		1.000 0.160 16 1583369 stop gained C/T snv 8.8E-05 5.6E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs779007169
rs779007169 		1.000 0.080 16 1520177 missense variant C/G;T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs779007169
rs779007169 		1.000 0.080 16 1520177 missense variant C/G;T snv 4.0E-06
CUI: C0021359
Disease: Infertility
Infertility 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1417500285
rs1417500285 		0.925 0.240 16 1562007 missense variant G/A snv 1.4E-05
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1417500285
rs1417500285 		0.925 0.240 16 1562007 missense variant G/A snv 1.4E-05
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1423102192
rs1423102192 		1.000 0.160 16 1526594 non coding transcript exon variant C/T snv
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555486629
rs1555486629 		1.000 0.160 16 1558056 stop gained G/A snv
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0