FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
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: rs761162914
rs761162914 		1.000 0.080 16 86512933 missense variant C/T snv 8.0E-06
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 3 2009 2016
dbSNP: rs752504125
rs752504125 		1.000 16 86511227 missense variant G/A;T snv 7.7E-06
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION 		0.700 1.000 1 1990 1990
dbSNP: rs1057518868
rs1057518868 		0.925 0.080 16 86510849 missense variant A/T snv
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057518868
rs1057518868 		0.925 0.080 16 86510849 missense variant A/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518868
rs1057518868 		0.925 0.080 16 86510849 missense variant A/T snv
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		0.700 0
dbSNP: rs121909336
rs121909336 		1.000 0.080 16 86510794 stop gained C/A snv
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs121909337
rs121909337 		1.000 0.080 16 86513083 stop lost T/C snv
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs1567511932
rs1567511932 		1.000 0.080 16 86513085 stop lost A/C snv
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs672601295
rs672601295 		0.925 0.040 16 86510985 missense variant G/A snv
CUI: C2675862
Disease: Pyloric Stenosis, Infantile Hypertrophic, 5
Pyloric Stenosis, Infantile Hypertrophic, 5 		Digestive System Diseases 0.700 0
dbSNP: rs672601295
rs672601295 		0.925 0.040 16 86510985 missense variant G/A snv
CUI: C1867403
Disease: Pyloric Stenosis, Infantile Hypertrophic 1
Pyloric Stenosis, Infantile Hypertrophic 1 		Digestive System Diseases 0.010 1.000 1 2017 2017