FMN2, formin 2, 56776

N. diseases: 88; N. variants: 27
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: rs12044944
rs12044944 		1 240418353 intron variant C/T snv 0.18
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs1456649
rs1456649 		1 240288305 intron variant G/C snv 3.0E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1456649
rs1456649 		1 240288305 intron variant G/C snv 3.0E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1456649
rs1456649 		1 240288305 intron variant G/C snv 3.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1456649
rs1456649 		1 240288305 intron variant G/C snv 3.0E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1456649
rs1456649 		1 240288305 intron variant G/C snv 3.0E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4330908
rs4330908 		1 240326652 intron variant G/C snv 1.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6664907
rs6664907 		1 240285168 intron variant T/C snv 5.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7520065
rs7520065 		1 240225176 intron variant T/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7550088
rs7550088 		1 240239353 intron variant T/A;C snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs9287237
rs9287237 		1 240433914 intron variant G/T snv 0.18
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
dbSNP: rs9287237
rs9287237 		1 240433914 intron variant G/T snv 0.18
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2013 2013
dbSNP: rs727502860
rs727502860 		1.000 1 240093499 frameshift variant -/C delins
CUI: C4015444
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 		0.700 0
dbSNP: rs727502861
rs727502861 		1.000 1 240207325 frameshift variant A/- delins
CUI: C4015444
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 		0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C4015444
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 		0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs757511770
rs757511770 		0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs10754699
rs10754699 		1.000 0.040 1 240386016 intron variant C/T snv 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12124187
rs12124187 		1.000 0.040 1 240386041 intron variant C/T snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12563220
rs12563220 		1.000 0.040 1 240384420 intron variant C/T snv 8.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017