SIRT1, sirtuin 1, 23411

N. diseases: 675; N. variants: 21
Disease: Craniosynostosis, Type 1 ×
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: rs1467568
rs1467568 		0.776 0.320 10 67915401 intron variant A/G snv 0.46
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2273773
rs2273773 		0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs33957861
rs33957861 		0.882 0.160 10 67887218 intron variant C/T snv 0.11
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3740051
rs3740051 		0.925 0.200 10 67884201 upstream gene variant A/G;T snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3818292
rs3818292 		0.827 0.280 10 67907144 intron variant A/G snv 7.1E-02
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7069102
rs7069102 		0.790 0.440 10 67903362 intron variant C/G snv 0.64
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs932658
rs932658 		0.925 0.120 10 67884459 upstream gene variant A/C;T snv
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019