SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 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: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0024433
Disease: Macrostomia
Macrostomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.700 1.000 1 2019 2019