NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Disease: Marshall-Smith syndrome ×
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: rs1568318932
rs1568318932 		0.925 0.240 19 13075673 splice donor variant T/C snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2010 2015
dbSNP: rs1568318540
rs1568318540 		1.000 0.120 19 13075547 frameshift variant C/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555696611
rs1555696611 		0.925 0.240 19 13025350 frameshift variant C/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555705733
rs1555705733 		1.000 0.120 19 13075641 frameshift variant -/C delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568268397
rs1568268397 		0.925 0.240 19 13025129 stop gained A/T snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907253
rs387907253 		0.925 0.240 19 13073055 stop gained C/T snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122869
rs398122869 		1.000 0.120 19 13078665 frameshift variant TC/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122870
rs398122870 		1.000 0.120 19 13078691 frameshift variant -/T delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122871
rs398122871 		1.000 0.120 19 13078659 frameshift variant CTCTC/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122872
rs398122872 		1.000 0.120 19 13078703 frameshift variant -/C delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122873
rs398122873 		1.000 0.120 19 13081843 frameshift variant G/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122874
rs398122874 		1.000 0.120 19 13078650 frameshift variant -/T delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122875
rs398122875 		1.000 0.120 19 13078613 frameshift variant -/C delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122876
rs398122876 		1.000 0.120 19 13075672 splice donor variant G/A;T snv
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045737
rs797045737 		1.000 0.120 19 13081680 frameshift variant GAGCCCCCGGGCCACAG/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045738
rs797045738 		1.000 0.120 19 13078626 frameshift variant AA/- delins
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0