rs757511770, FMN2

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of coordination
CUI: C4023353
Disease: Abnormality of coordination
3 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
CUI: C4015444
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
3 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0