TCTN3, tectonic family member 3, 26123

N. diseases: 136; N. variants: 6
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: rs745688122
rs745688122 		1.000 10 95693897 start lost C/T snv 3.2E-05 2.1E-05
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.700 1.000 1 2015 2015
dbSNP: rs764091969
rs764091969 		1.000 0.080 10 95686506 stop gained G/A;T snv 4.8E-05
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs387907273
rs387907273 		1.000 0.080 10 95682776 stop gained G/A snv 4.0E-06 4.2E-05
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs768525869
rs768525869 		1.000 0.080 10 95682754 frameshift variant AG/- delins 7.0E-06
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs793888507
rs793888507 		1.000 0.080 10 95687652 frameshift variant CT/- delins
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs793888508
rs793888508 		1.000 10 95685585 stop gained C/A;T snv
CUI: C3553758
Disease: JOUBERT SYNDROME 18
JOUBERT SYNDROME 18 		0.700 0