NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
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: rs387907254
rs387907254 		1.000 0.240 19 13025172 missense variant T/C snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2010 2015
dbSNP: rs387907255
rs387907255 		1.000 0.240 19 13025355 missense variant G/C snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2010 2015
dbSNP: rs1568318932
rs1568318932 		0.925 0.240 19 13075673 splice donor variant T/C snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2015
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: rs10411958
rs10411958 		19 13002827 intron variant T/A;C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs10413329
rs10413329 		19 13003620 intron variant A/C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs117533700
rs117533700 		19 13065914 intron variant C/G;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs117533700
rs117533700 		19 13065914 intron variant C/G;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
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: rs587779381
rs587779381 		1.000 0.240 19 13073924 stop gained C/G snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs797045056
rs797045056 		1.000 0.240 19 13025330 frameshift variant -/AGATC delins
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1135401802
rs1135401802 		1.000 0.240 19 13025066 frameshift variant G/- del
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555696597
rs1555696597 		1.000 0.240 19 13025330 missense variant A/G snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555696611
rs1555696611 		0.925 0.240 19 13025350 frameshift variant C/- delins
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
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: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		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: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555696625
rs1555696625 		0.851 0.360 19 13025409 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1555696641
rs1555696641 		1.000 0.240 19 13025460 missense variant G/C snv
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 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