POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive ×
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: rs191582628
rs191582628 		0.925 0.120 6 43520962 missense variant G/A;C snv 2.0E-04
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 3 2011 2018
dbSNP: rs780663139
rs780663139 		1.000 0.120 6 43520296 frameshift variant G/- delins 8.0E-06
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs141156009
rs141156009 		0.925 0.120 6 43520961 missense variant C/T snv 4.4E-05 7.7E-05
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554131502
rs1554131502 		0.925 0.120 6 43519820 missense variant T/A snv
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs387907020
rs387907020 		1.000 0.120 6 43521238 stop gained A/T snv 4.0E-06 7.0E-06
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs796052127
rs796052127 		0.925 0.120 6 43519782 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0